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<ul id="toc-Signs_and_symptoms-sublist" class="vector-toc-list"> <li id="toc-Male_adrenoleukodystrophy_phenotypes" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Male_adrenoleukodystrophy_phenotypes"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.1</span> <span>Male adrenoleukodystrophy phenotypes</span> </div> </a> <ul id="toc-Male_adrenoleukodystrophy_phenotypes-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Female_adrenoleukodystrophy_phenotypes" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Female_adrenoleukodystrophy_phenotypes"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.2</span> <span>Female adrenoleukodystrophy phenotypes</span> </div> </a> <ul id="toc-Female_adrenoleukodystrophy_phenotypes-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Genetics" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Genetics"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Genetics</span> </div> </a> <ul id="toc-Genetics-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Pathogenesis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Pathogenesis"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Pathogenesis</span> </div> </a> <ul id="toc-Pathogenesis-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Diagnosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Diagnosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Diagnosis</span> </div> </a> <ul id="toc-Diagnosis-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Treatments" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Treatments"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Treatments</span> </div> </a> <button aria-controls="toc-Treatments-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Treatments subsection</span> </button> <ul id="toc-Treatments-sublist" class="vector-toc-list"> <li id="toc-Dietary_therapy" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Dietary_therapy"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.1</span> <span>Dietary therapy</span> </div> </a> <ul id="toc-Dietary_therapy-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Transplant" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Transplant"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.2</span> <span>Transplant</span> </div> </a> <ul id="toc-Transplant-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Gene_therapy" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Gene_therapy"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.3</span> <span>Gene therapy</span> </div> </a> <ul id="toc-Gene_therapy-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Adrenal_insufficiency" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Adrenal_insufficiency"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.4</span> <span>Adrenal insufficiency</span> </div> </a> <ul id="toc-Adrenal_insufficiency-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Epidemiology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Epidemiology"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>Epidemiology</span> </div> </a> <ul id="toc-Epidemiology-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Asymptomology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Asymptomology"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>Asymptomology</span> </div> </a> <ul id="toc-Asymptomology-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>External links</span> </div> </a> <ul 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Available in 25 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-25" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">25 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D8%B3%D9%88%D8%A1_%D8%AA%D8%BA%D8%B0%D9%8A%D8%A9_%D8%A7%D9%84%D9%83%D8%B8%D8%B1%D9%8A%D8%A9_%D9%88%D8%A8%D9%8A%D8%B6%D8%A7%D8%A1_%D8%A7%D9%84%D8%AF%D9%85%D8%A7%D8%BA" title="سوء تغذية الكظرية وبيضاء الدماغ – Arabic" lang="ar" hreflang="ar" data-title="سوء تغذية الكظرية وبيضاء الدماغ" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Adrenoleukodistrofija" title="Adrenoleukodistrofija – Bosnian" lang="bs" hreflang="bs" data-title="Adrenoleukodistrofija" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-da mw-list-item"><a href="https://da.wikipedia.org/wiki/Adrenoleukodystrofi" title="Adrenoleukodystrofi – Danish" lang="da" hreflang="da" data-title="Adrenoleukodystrofi" data-language-autonym="Dansk" data-language-local-name="Danish" class="interlanguage-link-target"><span>Dansk</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Adrenoleukodystrophie" title="Adrenoleukodystrophie – German" lang="de" hreflang="de" data-title="Adrenoleukodystrophie" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-el mw-list-item"><a href="https://el.wikipedia.org/wiki/%CE%91%CE%B4%CF%81%CE%B5%CE%BD%CE%BF%CE%BB%CE%B5%CF%85%CE%BA%CE%BF%CE%B4%CF%85%CF%83%CF%84%CF%81%CE%BF%CF%86%CE%AF%CE%B1" title="Αδρενολευκοδυστροφία – Greek" lang="el" hreflang="el" data-title="Αδρενολευκοδυστροφία" data-language-autonym="Ελληνικά" data-language-local-name="Greek" class="interlanguage-link-target"><span>Ελληνικά</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Adrenoleucodistrofia" title="Adrenoleucodistrofia – Spanish" lang="es" hreflang="es" data-title="Adrenoleucodistrofia" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D8%A2%D8%AF%D8%B1%D9%86%D9%88%D9%84%DA%A9%D9%88%D8%AF%DB%8C%D8%B3%D8%AA%D8%B1%D9%88%D9%81%DB%8C" title="آدرنولکودیستروفی – Persian" lang="fa" hreflang="fa" data-title="آدرنولکودیستروفی" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Adr%C3%A9noleucodystrophie_li%C3%A9e_%C3%A0_l%27X" title="Adrénoleucodystrophie liée à l'X – French" lang="fr" hreflang="fr" data-title="Adrénoleucodystrophie liée à l'X" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-gl mw-list-item"><a href="https://gl.wikipedia.org/wiki/Adrenoleucodistrofia" title="Adrenoleucodistrofia – Galician" lang="gl" hreflang="gl" data-title="Adrenoleucodistrofia" data-language-autonym="Galego" data-language-local-name="Galician" class="interlanguage-link-target"><span>Galego</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EB%B6%80%EC%8B%A0%EB%B0%B1%EC%A7%88%EC%9D%B4%EC%98%81%EC%96%91%EC%A6%9D" title="부신백질이영양증 – Korean" lang="ko" hreflang="ko" data-title="부신백질이영양증" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-hr mw-list-item"><a href="https://hr.wikipedia.org/wiki/Adrenoleukodistrofija" title="Adrenoleukodistrofija – Croatian" lang="hr" hreflang="hr" data-title="Adrenoleukodistrofija" data-language-autonym="Hrvatski" data-language-local-name="Croatian" class="interlanguage-link-target"><span>Hrvatski</span></a></li><li class="interlanguage-link interwiki-id mw-list-item"><a href="https://id.wikipedia.org/wiki/Adrenoleukodistrofi" title="Adrenoleukodistrofi – Indonesian" lang="id" hreflang="id" data-title="Adrenoleukodistrofi" data-language-autonym="Bahasa Indonesia" data-language-local-name="Indonesian" class="interlanguage-link-target"><span>Bahasa Indonesia</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Adrenoleucodistrofia" title="Adrenoleucodistrofia – Italian" lang="it" hreflang="it" data-title="Adrenoleucodistrofia" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/ALD" title="ALD – Hebrew" lang="he" hreflang="he" data-title="ALD" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Adrenoleukodystrofie" title="Adrenoleukodystrofie – Dutch" lang="nl" hreflang="nl" data-title="Adrenoleukodystrofie" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/%E5%89%AF%E8%85%8E%E7%99%BD%E8%B3%AA%E3%82%B8%E3%82%B9%E3%83%88%E3%83%AD%E3%83%95%E3%82%A3%E3%83%BC" title="副腎白質ジストロフィー – Japanese" lang="ja" hreflang="ja" data-title="副腎白質ジストロフィー" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-no mw-list-item"><a href="https://no.wikipedia.org/wiki/X-bundet_adrenoleukodystrofi" title="X-bundet adrenoleukodystrofi – Norwegian Bokmål" lang="nb" hreflang="nb" data-title="X-bundet adrenoleukodystrofi" data-language-autonym="Norsk bokmål" data-language-local-name="Norwegian Bokmål" class="interlanguage-link-target"><span>Norsk bokmål</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Adrenoleukodystrofia" title="Adrenoleukodystrofia – Polish" lang="pl" hreflang="pl" data-title="Adrenoleukodystrofia" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/Adrenoleucodistrofia" title="Adrenoleucodistrofia – Portuguese" lang="pt" hreflang="pt" data-title="Adrenoleucodistrofia" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-simple mw-list-item"><a href="https://simple.wikipedia.org/wiki/Adrenoleukodystrophy" title="Adrenoleukodystrophy – Simple English" lang="en-simple" hreflang="en-simple" data-title="Adrenoleukodystrophy" data-language-autonym="Simple English" data-language-local-name="Simple English" class="interlanguage-link-target"><span>Simple English</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%90%D0%B4%D1%80%D0%B5%D0%BD%D0%BE%D0%BB%D0%B5%D1%83%D0%BA%D0%BE%D0%B4%D0%B8%D1%81%D1%82%D1%80%D0%BE%D1%84%D0%B8%D1%98%D0%B0" title="Адренолеукодистрофија – Serbian" lang="sr" hreflang="sr" data-title="Адренолеукодистрофија" data-language-autonym="Српски / srpski" data-language-local-name="Serbian" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Adrenoleukodystrofia" title="Adrenoleukodystrofia – Finnish" lang="fi" hreflang="fi" data-title="Adrenoleukodystrofia" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Adrenoleukodystrofi" title="Adrenoleukodystrofi – Swedish" lang="sv" hreflang="sv" data-title="Adrenoleukodystrofi" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Adrenol%C3%B6kodistrofi" title="Adrenolökodistrofi – Turkish" lang="tr" hreflang="tr" data-title="Adrenolökodistrofi" data-language-autonym="Türkçe" data-language-local-name="Turkish" class="interlanguage-link-target"><span>Türkçe</span></a></li><li class="interlanguage-link interwiki-zh mw-list-item"><a href="https://zh.wikipedia.org/wiki/%E8%85%8E%E4%B8%8A%E8%85%BA%E8%85%A6%E7%99%BD%E8%B3%AA%E5%A4%B1%E9%A4%8A%E7%97%87" title="腎上腺腦白質失養症 – Chinese" lang="zh" hreflang="zh" data-title="腎上腺腦白質失養症" data-language-autonym="中文" data-language-local-name="Chinese" class="interlanguage-link-target"><span>中文</span></a></li> </ul> <div class="after-portlet after-portlet-lang"><span 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id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><style data-mw-deduplicate="TemplateStyles:r1236090951">.mw-parser-output .hatnote{font-style:italic}.mw-parser-output div.hatnote{padding-left:1.6em;margin-bottom:0.5em}.mw-parser-output .hatnote i{font-style:normal}.mw-parser-output .hatnote+link+.hatnote{margin-top:-0.5em}@media print{body.ns-0 .mw-parser-output .hatnote{display:none!important}}</style><div role="note" class="hatnote navigation-not-searchable">For the autosomal recessive, neonatal onset disease, see <a href="/wiki/Neonatal_adrenoleukodystrophy" title="Neonatal adrenoleukodystrophy">Neonatal adrenoleukodystrophy</a>.</div> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Adrenoleukodystrophy</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">X-linked adrenoleukodystrophy, ALD, X-ALD, Siemerling–Creutzfeldt disease, bronze Schilder disease</td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:Adrenoleukodystrophy.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/e/ee/Adrenoleukodystrophy.jpg/220px-Adrenoleukodystrophy.jpg" decoding="async" width="220" height="267" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/e/ee/Adrenoleukodystrophy.jpg/330px-Adrenoleukodystrophy.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/e/ee/Adrenoleukodystrophy.jpg/440px-Adrenoleukodystrophy.jpg 2x" data-file-width="806" data-file-height="978" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data"><a href="/wiki/White_matter" title="White matter">White matter</a>, with reduced volume and increased signal intensity. The anterior white matter is spared. Features are consistent with X-linked adrenoleukodystrophy.</td></tr><tr><th scope="row" class="infobox-label">Pronunciation</th><td class="infobox-data"><style data-mw-deduplicate="TemplateStyles:r1126788409">.mw-parser-output .plainlist ol,.mw-parser-output .plainlist ul{line-height:inherit;list-style:none;margin:0;padding:0}.mw-parser-output .plainlist ol li,.mw-parser-output .plainlist ul li{margin-bottom:0}</style><div class="plainlist"><ul><li><span class="rt-commentedText nowrap"><span class="IPA nopopups noexcerpt" lang="en-fonipa"><a href="/wiki/Help:IPA/English" title="Help:IPA/English">/-<span style="border-bottom:1px dotted"><span title="/ˌ/: secondary stress follows">ˌ</span><span title="/lj/: 'l' in 'lute'">lj</span><span title="/uː/: 'oo' in 'goose'">uː</span><span title="'k' in 'kind'">k</span><span title="/oʊ/: 'o' in 'code'">oʊ</span><span title="/ˈ/: primary stress follows">ˈ</span><span title="'d' in 'dye'">d</span><span title="/ɪ/: 'i' in 'kit'">ɪ</span><span title="'s' in 'sigh'">s</span><span title="'t' in 'tie'">t</span><span title="'r' in 'rye'">r</span><span title="/ə/: 'a' in 'about'">ə</span><span title="'f' in 'find'">f</span><span title="/i/: 'y' in 'happy'">i</span></span>/</a></span></span> </li></ul></div></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Medical_genetics" title="Medical genetics">Medical genetics</a></td></tr><tr><th scope="row" class="infobox-label">Types</th><td class="infobox-data">X-Linked ALD</td></tr></tbody></table> <p><b>Adrenoleukodystrophy</b> (<b>ALD</b>) is a <a href="/wiki/Genetic_disorder" title="Genetic disorder">disease</a> linked to the <a href="/wiki/X_chromosome" title="X chromosome">X chromosome</a>. It is a result of <a href="/wiki/Fatty_acid" title="Fatty acid">fatty acid</a> buildup caused by failure of <a href="/wiki/Peroxisome#Metabolic_functions" title="Peroxisome">peroxisomal fatty acid beta oxidation</a> which results in the accumulation of <a href="/wiki/Very_long_chain_fatty_acids" class="mw-redirect" title="Very long chain fatty acids">very long chain fatty acids</a> in tissues throughout the body. The most severely affected tissues are the <a href="/wiki/Myelin" title="Myelin">myelin</a> in the <a href="/wiki/Central_nervous_system" title="Central nervous system">central nervous system</a>, the <a href="/wiki/Adrenal_cortex" title="Adrenal cortex">adrenal cortex</a>, and the <a href="/wiki/Leydig_cells" class="mw-redirect" title="Leydig cells">Leydig cells</a> in the testes. The long chain fatty acid buildup causes damage to the <a href="/wiki/Myelin_sheath" class="mw-redirect" title="Myelin sheath">myelin sheath</a> of the <a href="/wiki/Neuron" title="Neuron">neurons</a> of the brain, resulting in <a href="/wiki/Seizure" title="Seizure">seizures</a> and hyperactivity. Other symptoms include problems in speaking, listening, and understanding verbal instructions. </p><p>Clinically, ALD presents as a heterogeneous disorder, showing several distinct <a href="/wiki/Phenotypes" class="mw-redirect" title="Phenotypes">phenotypes</a>, and no clear pattern of <a href="/wiki/Genotype%E2%80%93phenotype_correlation" class="mw-redirect" title="Genotype–phenotype correlation">genotype–phenotype correlation</a>. As an X-linked disorder, ALD presents most commonly in males; however, approximately 50% of <a href="/wiki/Heterozygote" class="mw-redirect" title="Heterozygote">heterozygote</a> females show some symptoms later in life. Approximately two-thirds of ALD patients will present with the childhood cerebral form of the disease, which is the most severe form. It is characterized by normal development in early childhood, followed by rapid degeneration to a <a href="/wiki/Vegetative_state" title="Vegetative state">vegetative state</a>. The other forms of ALD vary in timing of onset and in clinical severity, ranging from adrenal insufficiency alone to progressive <a href="/wiki/Paraparesis" class="mw-redirect" title="Paraparesis">paraparesis</a> in early adulthood. </p><p>ALD is caused by mutations in <i><a href="/wiki/ABCD1" title="ABCD1">ABCD1</a></i>, a gene located on the <a href="/wiki/X_chromosome" title="X chromosome">X chromosome</a> that codes for ALD, a peroxisomal <a href="/wiki/Membrane_transporter_protein" class="mw-redirect" title="Membrane transporter protein">membrane transporter protein</a>. The exact mechanism of the pathogenesis of the various forms of ALD is not known. Biochemically, individuals with ALD show very high levels of unbranched, saturated, very long chain fatty acids, particularly <a href="/wiki/Cerotic_acid" title="Cerotic acid">cerotic acid</a> (26:0). The level of cerotic acid in plasma does not correlate with clinical presentation. Treatment options for ALD are limited. For the childhood cerebral form, <a href="/wiki/Stem_cell_transplant" class="mw-redirect" title="Stem cell transplant">stem cell transplant</a> and <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> are options if the disease is detected early in the clinical course. Adrenal insufficiency in ALD patients can be successfully treated. ALD is the most common peroxisomal inborn error of metabolism, with an incidence estimated between 1:18,000 and 1:50,000. It does not have a significantly higher incidence in any specific ethnic group. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Signs_and_symptoms">Signs and symptoms</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>ALD can present in different ways. The different presentations are complicated by the pattern of <a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">X-linked recessive</a> inheritance. There have been seven <a href="/wiki/Phenotype" title="Phenotype">phenotypes</a> described in males with <i><a href="/wiki/ABCD1" title="ABCD1">ABCD1</a></i> mutations and five in females.<sup id="cite_ref-scriver_1-0" class="reference"><a href="#cite_note-scriver-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Initial symptoms in boys affected with the childhood cerebral form of ALD include emotional instability, <a href="/wiki/Hyperactivity" class="mw-redirect" title="Hyperactivity">hyperactivity</a> and disruptive behavior at school. Older patients affected with the cerebral form will present with similar symptoms. Untreated, cerebral ALD is characterized by progressive demyelination leading to a <a href="/wiki/Vegetative_state" title="Vegetative state">vegetative state</a> and death.<sup id="cite_ref-bergerreview_2-0" class="reference"><a href="#cite_note-bergerreview-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> Adult males with an adrenomyeloneuropathy presentation typically present initially with muscle stiffness, paraparesis and sexual dysfunction.<sup id="cite_ref-genereviews_3-0" class="reference"><a href="#cite_note-genereviews-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> All patients with clinically recognized ALD phenotypes are at risk for adrenal insufficiency.<sup id="cite_ref-bergerreview_2-1" class="reference"><a href="#cite_note-bergerreview-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> There is no reliable way to predict which form of the disease an affected individual will develop, with multiple phenotypes being demonstrated within families.<sup id="cite_ref-omim_4-0" class="reference"><a href="#cite_note-omim-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> Onset of adrenal insufficiency is often the first symptom, appearing as early as two years of age.<sup id="cite_ref-genereviews_3-1" class="reference"><a href="#cite_note-genereviews-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Male_adrenoleukodystrophy_phenotypes">Male adrenoleukodystrophy phenotypes</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=2" title="Edit section: Male adrenoleukodystrophy phenotypes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <table class="wikitable"> <caption>Male adrenoleukodystrophy phenotypes<sup id="cite_ref-scriver_1-1" class="reference"><a href="#cite_note-scriver-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </caption> <tbody><tr> <th width="15%">Phenotype </th> <th width="50%">Description </th> <th width="15%">Onset </th> <th width="20%">Approximate relative frequency </th></tr> <tr> <td>Childhood cerebral </td> <td>Progressive neurodegenerative decline, leading to a vegetative state without treatment </td> <td>3–10 years </td> <td>31–35% </td></tr> <tr> <td>Adolescent </td> <td>Similar to childhood cerebral, with a slower progression </td> <td>11–21 years </td> <td>4–7% </td></tr> <tr> <td>Adrenomyeloneuropathy (AMN) </td> <td>Progressive <a href="/wiki/Neuropathy" class="mw-redirect" title="Neuropathy">neuropathy</a>, <a href="/wiki/Paraparesis" class="mw-redirect" title="Paraparesis">paraparesis</a>; approximately 40% progress to cerebral involvement </td> <td>21–37 years </td> <td>40–46% </td></tr> <tr> <td>Adult cerebral </td> <td><a href="/wiki/Dementia" title="Dementia">Dementia</a>, behavioral disturbances, similar progression to childhood cerebral form, but without preceding AMN phenotype </td> <td>Adulthood </td> <td>2–5% </td></tr> <tr> <td>Olivo-ponto-cerebellar </td> <td>Cerebral and <a href="/wiki/Brain_stem" class="mw-redirect" title="Brain stem">brain stem</a> involvement </td> <td>Adolescence to adulthood </td> <td>1–2% </td></tr> <tr> <td>"<a href="/wiki/Addison_disease" class="mw-redirect" title="Addison disease">Addison disease</a> only" </td> <td>Adrenal insufficiency </td> <td>Before 7.5 years </td> <td>Up to 50% in childhood, varies with age </td></tr> <tr> <td>Asymptomatic </td> <td>No clinical presentation, further studies can reveal subclinical adrenal insufficiency or mild AMN phenotype </td> <td>Most common phenotype in boys under four years of age </td> <td>Proportion of asymptomatic patients decreases with age </td></tr></tbody></table> <div class="mw-heading mw-heading3"><h3 id="Female_adrenoleukodystrophy_phenotypes">Female adrenoleukodystrophy phenotypes</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=3" title="Edit section: Female adrenoleukodystrophy phenotypes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <table class="wikitable"> <caption>Female adrenoleukodystrophy phenotypes<sup id="cite_ref-scriver_1-2" class="reference"><a href="#cite_note-scriver-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </caption> <tbody><tr> <th width="15%">Phenotype </th> <th width="50%">Description </th> <th width="15%">Onset </th> <th width="20%">Approximate relative frequency </th></tr> <tr> <td>Asymptomatic </td> <td>No neurologic or adrenal involvement </td> <td>Most women under 30 do not have any neurologic involvement </td> <td>Diminishes with age </td></tr> <tr> <td>Mild myelopathy </td> <td>Increased deep tendon reflexes, sensory changes in lower extremities </td> <td>Adulthood </td> <td>Approximately 50% of women over 40 years of age </td></tr> <tr> <td>Moderate to severe myeloneuropathy </td> <td>Similar to male AMN phenotype, but later onset and milder presentation </td> <td>Adulthood </td> <td>Approximately 15% of women over 40 years of age </td></tr> <tr> <td>Cerebral involvement </td> <td>Progressive dementia and decline </td> <td>Rare in childhood, more common in adults </td> <td>~2% </td></tr> <tr> <td>Adrenal involvement </td> <td>Primary adrenal insufficiency </td> <td>Any age </td> <td>~1% </td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=4" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-halign-right" typeof="mw:File"><a href="/wiki/File:ABCD1-gene.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/c/cc/ABCD1-gene.svg/220px-ABCD1-gene.svg.png" decoding="async" width="220" height="102" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/c/cc/ABCD1-gene.svg/330px-ABCD1-gene.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/c/cc/ABCD1-gene.svg/440px-ABCD1-gene.svg.png 2x" data-file-width="390" data-file-height="181" /></a><figcaption></figcaption></figure> <p>ALD is caused by mutations in <i>ABCD1</i>, located at <a href="/wiki/X_chromosome" title="X chromosome">Xq28</a> and demonstrates <a href="/wiki/X-linked_recessive" class="mw-redirect" title="X-linked recessive">X-linked recessive</a> inheritance. The gene <i>ABCD1</i> encodes a peroxisomal membrane transporter which is responsible for transporting very long chain fatty acid substrate into the peroxisomes for degradation. Mutations in this gene that interfere with this process cause this syndrome.<sup id="cite_ref-Hung2013_5-0" class="reference"><a href="#cite_note-Hung2013-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> </p><p>Males with an <i>ABCD1</i> mutation are <a href="/wiki/Hemizygote" class="mw-redirect" title="Hemizygote">hemizygous</a>, as they only have a single X chromosome. Female carriers will typically avoid the most severe manifestations of the disease, but often become symptomatic later in life.<sup id="cite_ref-scriver_1-3" class="reference"><a href="#cite_note-scriver-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Although the detection of an <i>ABCD1</i> mutation identifies an individual who is affected with a form of ALD, there is no <a href="/wiki/Genotype%E2%80%93phenotype_correlation" class="mw-redirect" title="Genotype–phenotype correlation">genotype–phenotype correlation</a>.<sup id="cite_ref-geno_6-0" class="reference"><a href="#cite_note-geno-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> Within a family, there will often be several different phenotypes, despite the presence of the same causative mutation. In one case, a family with six affected members displayed five different phenotypes.<sup id="cite_ref-scriver_1-4" class="reference"><a href="#cite_note-scriver-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> There are no common mutations that cause ALD, most are private or familial. Almost 600<sup id="cite_ref-genereviews_3-2" class="reference"><a href="#cite_note-genereviews-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> different mutations have been identified, approximately half are <a href="/wiki/Missense_mutations" class="mw-redirect" title="Missense mutations">missense mutations</a>, one quarter are <a href="/wiki/Frameshift_mutation" title="Frameshift mutation">frameshifts</a>, with in-frame deletions and splicing defects making up the remainder.<sup id="cite_ref-scriver_1-5" class="reference"><a href="#cite_note-scriver-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> The incidence of new mutations in ALD (those occurring spontaneously, rather than being inherited from a carrier parent) is estimated at 4.1%, with the possibility that these are due to <a href="/wiki/Germline_mosaicism" title="Germline mosaicism">germline mosaicism</a>.<sup id="cite_ref-genereviews_3-3" class="reference"><a href="#cite_note-genereviews-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Pathogenesis">Pathogenesis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=5" title="Edit section: Pathogenesis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The exact cause for the varied collection of symptoms found in the different ALD phenotypes is not clear. The <a href="/wiki/White_matter" title="White matter">white matter</a> of the brain, the <a href="/wiki/Leydig_cells" class="mw-redirect" title="Leydig cells">Leydig cells</a> of the <a href="/wiki/Testes" class="mw-redirect" title="Testes">testes</a> and the adrenal cortex are the most severely affected systems.<sup id="cite_ref-scriver_1-6" class="reference"><a href="#cite_note-scriver-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> The excess VLCFA can be detected in almost all tissues of the body, despite the localization of symptoms.<sup id="cite_ref-scriver_1-7" class="reference"><a href="#cite_note-scriver-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> The lack of Coenzyme A does not permit the disintegration of the VLCFA, accumulating the same in the white matter, adrenal glands, and the testes more specifically in the Leydig cells not allowing the proper function of these organs. Successful treatment of the demyelination process that affects the brain with either stem cell transplant or gene therapy does not immediately normalize the VLCFA levels in body tissues.<sup id="cite_ref-transplantreview_7-0" class="reference"><a href="#cite_note-transplantreview-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> The levels of VLCFA can be normalized by treatment with <a href="/wiki/Lorenzo%27s_oil" title="Lorenzo's oil">Lorenzo's oil</a>, but this does not alter the progression of the disease.<sup id="cite_ref-bergerreview_2-2" class="reference"><a href="#cite_note-bergerreview-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> It is unclear whether the accumulation of VLCFA is associated with the pathogenesis of the disease in a specific way, or if it is a biochemical phenotype, useful for identification.<sup id="cite_ref-scriver_1-8" class="reference"><a href="#cite_note-scriver-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=6" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The clinical presentation of ALD can vary greatly, making diagnosis difficult. With the variety of phenotypes, clinical suspicion of ALD can result from a variety of different presentations. Symptoms vary based on the disease phenotype, and even within families or between twins.<sup id="cite_ref-omim_4-1" class="reference"><a href="#cite_note-omim-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> When ALD is suspected based on clinical symptoms, the initial testing usually includes plasma very long chain fatty acid (VLCFA) determination using <a href="/wiki/Gas_chromatography-mass_spectrometry" class="mw-redirect" title="Gas chromatography-mass spectrometry">gas chromatography-mass spectrometry</a>. The concentration of unsaturated VLCFA, particularly 26 carbon chains is significantly elevated in males with ALD, even prior to the development of other symptoms.<sup id="cite_ref-plasmavlcfa_8-0" class="reference"><a href="#cite_note-plasmavlcfa-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> Confirmation of ALD after positive plasma VLCFA determination usually involves molecular genetic analysis of <i>ABCD1</i>. In females, where plasma VLCFA measurement is not always conclusive (some female carriers will have normal VLCFA in plasma),<sup id="cite_ref-plasmavlcfa_8-1" class="reference"><a href="#cite_note-plasmavlcfa-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> molecular analysis is preferred, particularly in cases where the mutation in the family is known.<sup id="cite_ref-scriver_1-9" class="reference"><a href="#cite_note-scriver-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-genereviews_3-4" class="reference"><a href="#cite_note-genereviews-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Although the clinical phenotype is highly variable among affected males, the elevations of VLCFA are present in all males with an <i>ABCD1</i> mutation.<sup id="cite_ref-genereviews_3-5" class="reference"><a href="#cite_note-genereviews-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> </p><p>Because the characteristic elevations associated with ALD are present at birth, well before any symptoms are apparent, there have been methods developed<sup id="cite_ref-nbsxald2_9-0" class="reference"><a href="#cite_note-nbsxald2-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-nbsxald3_10-0" class="reference"><a href="#cite_note-nbsxald3-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> in the interests of including it in <a href="/wiki/Newborn_screening" title="Newborn screening">newborn screening</a> programs.<sup id="cite_ref-nbsxald_11-0" class="reference"><a href="#cite_note-nbsxald-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> One of the difficulties with ALD as a disease included in universal newborn screening is the difficulty in predicting the eventual phenotype that an individual will express. The accepted treatment for affected boys presenting with the cerebral childhood form of the disease is a <a href="/wiki/Bone_marrow_transplant" class="mw-redirect" title="Bone marrow transplant">bone marrow transplant</a>, a procedure which carries significant risks.<sup id="cite_ref-bergerreview_2-3" class="reference"><a href="#cite_note-bergerreview-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-transplantreview_7-1" class="reference"><a href="#cite_note-transplantreview-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> However, because most affected males will demonstrate adrenal insufficiency, early discovery and treatment of this symptom could potentially prevent complications and allow these patients to be monitored for other treatment in the future, depending on the progression of their disease.<sup id="cite_ref-nbsxald_11-1" class="reference"><a href="#cite_note-nbsxald-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> </p><p>The Loes score is a rating of the severity of abnormalities in the brain found on MRI. It ranges from 0 to 34, based on a point system derived from the location and extent of disease and the presence of atrophy in the brain, either localized to specific points or generally throughout the brain. A Loes score of 0.5 or less is classified as normal, while a Loes score of 14 or greater is considered severe. It was developed by neuroradiologist Daniel J. Loes MD and is an important tool in assessing disease progression and the effectiveness of therapy.<sup id="cite_ref-12" class="reference"><a href="#cite_note-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Treatments">Treatments</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=7" title="Edit section: Treatments"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Dietary_therapy">Dietary therapy</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=8" title="Edit section: Dietary therapy"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Initial attempts at dietary therapy in ALD involved restricting the intake of very-long chain fatty acids (VLCFA). Dietary intake is not the only source for VLCFA in the body, as they are also synthesized endogenously. This dietary restriction did not impact the levels of VLCFA in plasma and other body tissues.<sup id="cite_ref-bergerreview_2-4" class="reference"><a href="#cite_note-bergerreview-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> After the realization that endogenous synthesis was an important contribution to VLCFA in the body, efforts at dietary therapy shifted to inhibiting these synthetic pathways in the body. The <a href="/wiki/Augusto_and_Michaela_Odone" class="mw-redirect" title="Augusto and Michaela Odone">parents</a> of <a href="/wiki/Lorenzo_Odone" class="mw-redirect" title="Lorenzo Odone">Lorenzo Odone</a>, a boy with ALD, spearheaded efforts to develop a dietary treatment to slow the progression of the disease. They developed a mixture of unsaturated fatty acids (<a href="/wiki/Glyceryl_trioleate" class="mw-redirect" title="Glyceryl trioleate">glycerol trioleate</a> and glyceryl trierucate in a 4:1 ratio), known as <a href="/wiki/Lorenzo%27s_oil" title="Lorenzo's oil">Lorenzo's oil</a> that inhibits elongation of saturated fatty acids in the body.<sup id="cite_ref-bergerreview_2-5" class="reference"><a href="#cite_note-bergerreview-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-transplantreview_7-2" class="reference"><a href="#cite_note-transplantreview-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Supplementation with Lorenzo's oil has been found to normalize the VLCFA concentrations in the body, although its effectiveness at treating the cerebral manifestations of the disease is still controversial and unproven.<sup id="cite_ref-oil_13-0" class="reference"><a href="#cite_note-oil-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> Trials with Lorenzo's oil have shown that it does not stop the neurological degradation in symptomatic patients, nor does it improve adrenal function,<sup id="cite_ref-bergerreview_2-6" class="reference"><a href="#cite_note-bergerreview-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> but asymptomatic patients, and speculatively AMN variants without cerebral involvement, as well as female carriers may benefit from early intake of oleic and erucic acids in addition to VLCFA restriction.<sup id="cite_ref-14" class="reference"><a href="#cite_note-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> </p><p><b>Adrenomix®</b>: In 2009, a second-generation mixture was created, adding to the glycerol trioleate (GTO) and trierucate <a href="/wiki/Glycerol" title="Glycerol">glycerol</a> (GTE), <a href="/wiki/Conjugated_linoleic_acid" title="Conjugated linoleic acid">conjugated linoleic acid</a> (CLA) a group of linoleic acid isomers capable of overcoming the <a href="/wiki/Blood%E2%80%93brain_barrier" title="Blood–brain barrier">blood-brain barrier</a>. CLA, through the activation of peroxisome beta oxidation, increases the <a href="/wiki/Catabolism" title="Catabolism">catabolism</a> of pro-inflammatory molecules and ROS, acting as an anti-inflammatory and antioxidant. The use of CLA was initially considered in relation to the ability to inhibit <a href="/wiki/Fatty_acid_synthase" title="Fatty acid synthase">fatty acid synthase</a> together with a hypolipidic diet. A group of Italian researchers of the Bambino Gesù Pediatric Hospital in Rome showed that the administration of Adrenomix (GTO, GTE and CLA), in addition to decreasing levels of <a href="/wiki/Very_long_chain_fatty_acid" title="Very long chain fatty acid">VLCFA</a> throughout the body, reduces neuro inflammation and improves somatosensory evoked potential, found unchanged or worsened with only administration of GTO and GTE.<sup id="cite_ref-15" class="reference"><a href="#cite_note-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> </p><p><b><a rel="nofollow" class="external text" href="https://aldixylald.com/">Aldixyl®</a></b>: In 2016, based on studies developed in recent years in the field of adrenoleukodystrophy and adrenomyelouropathy, a mixture was developed that adds to GTO, GTE and CLA, a mixture of powerful antioxidants at high dosages containing <a href="/wiki/Lipoic_acid" title="Lipoic acid">alpha lipoic acid</a> (ALA), reduced L- glutathione and <a href="/wiki/Vitamin_E" title="Vitamin E">Vitamin E</a> (α- tocopherol). Researchers at the IDIBELL- Hospital Duran i Reynals in Barcelona have shown that the early administration of a cocktail of powerful antioxidants, able to overcome the blood-brain barrier and thus carry out its activity at the <a href="/wiki/Central_nervous_system" title="Central nervous system">CNS</a> level, prevents the <a href="/wiki/Oxidative_stress" title="Oxidative stress">oxidative stress</a> typical of the disease, intervenes on the initial axonal dysfunctions and therefore on locomotor damage.<sup id="cite_ref-16" class="reference"><a href="#cite_note-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> This new mixture, unlike what happened with the administration of GTO and GTE alone, poorly accumulated at the level of the nervous system, enhances the anti-inflammatory activity and reduces the levels of VLCFA in the CNS by combining synergistically the activity of its components. In particular, CLA, in addition to overcoming the blood-brain barrier and regulating at the CNS level the metabolism of VLCFA is able to influence the catabolism of pro-inflammatory <a href="/wiki/Eicosanoid" title="Eicosanoid">eicosanoids</a> and <a href="/wiki/Lipid_peroxidation" title="Lipid peroxidation">lipid peroxidation</a> products.<sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-18" class="reference"><a href="#cite_note-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-19" class="reference"><a href="#cite_note-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-20" class="reference"><a href="#cite_note-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> In this sense, the anti-inflammatory activity of ALA, reduced L-glutathione and Vitamin E is enhanced at the level of the whole body, and not only at the peripheral level as was the case in the past.<sup id="cite_ref-22" class="reference"><a href="#cite_note-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Transplant">Transplant</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=9" title="Edit section: Transplant"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>While dietary therapy has been shown to be effective to normalize the very-long chain fatty acid concentrations in the plasma of individuals with ALD, <a href="/wiki/Hematopoietic_stem_cell_transplantation#Allogeneic" title="Hematopoietic stem cell transplantation">allogeneic hematopoietic stem cell transplants</a> is the only treatment that can stop <a href="/wiki/Demyelination" class="mw-redirect" title="Demyelination">demyelination</a> that is the hallmark of the cerebral forms of the disease.<sup id="cite_ref-transplantreview_7-3" class="reference"><a href="#cite_note-transplantreview-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> In order to be effective, the transplant must be done at an early stage of the disease; if the demyelination has progressed, transplant can worsen the outcome, and increase the rate of decline. While transplants have been shown to be effective at halting the demyelination process in those presenting with the childhood cerebral form of ALD, follow-up of these patients has shown that it does not improve adrenal function.<sup id="cite_ref-adrenalfunction_23-0" class="reference"><a href="#cite_note-adrenalfunction-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Gene_therapy">Gene therapy</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=10" title="Edit section: Gene therapy"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>For patients where an appropriate match for a transplant cannot be found, there have been investigations into the use of <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a>. Appropriate <a href="/wiki/Vectors_in_Gene_Therapy" class="mw-redirect" title="Vectors in Gene Therapy">vectors</a> are selected and modified to express <a href="/wiki/Wild_type" title="Wild type">wild type</a> <i>ABCD1</i>, which is then transplanted into the patients using a similar procedure as for a bone marrow or stem cell transplant.<sup id="cite_ref-transplantreview_7-4" class="reference"><a href="#cite_note-transplantreview-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Gene therapy has only been tried on a small number of patients, mainly in <a href="/wiki/France" title="France">France</a>. These patients were only considered for gene therapy after there was no <a href="/wiki/Human_leukocyte_antigen" title="Human leukocyte antigen">HLA match</a> for a traditional transplant. In two reported cases, the gene therapy was successful, with a resolution of the demyelination process up to two years after the procedure. Although the gene therapy was successful in resolving the neurological symptoms, plasma VLCFA levels remained elevated.<sup id="cite_ref-transplantreview_7-5" class="reference"><a href="#cite_note-transplantreview-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Elivaldogene_autotemcel" title="Elivaldogene autotemcel">Elivaldogene autotemcel</a> is pending authorization by the European Commission as of May 2021<sup class="plainlinks noexcerpt noprint asof-tag update" style="display:none;"><a class="external text" href="https://en.wikipedia.org/w/index.php?title=Adrenoleukodystrophy&action=edit">[update]</a></sup>. While this treatment is effective with 90% of patients being free of major functional disabilities after treatment, it costs $3.0 million per treatment and it comes with several adverse effects including mucositis and alopecia. <sup id="cite_ref-24" class="reference"><a href="#cite_note-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Skysona:_Pending_EC_decision_25-0" class="reference"><a href="#cite_note-Skysona:_Pending_EC_decision-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-26" class="reference"><a href="#cite_note-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-SPS_27-0" class="reference"><a href="#cite_note-SPS-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup> There are also reports of hematologic cancer development in patients receiving this gene therapy, including myelodysplastic syndrome and acute myeloid leukemia.<sup id="cite_ref-28" class="reference"><a href="#cite_note-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Adrenal_insufficiency">Adrenal insufficiency</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=11" title="Edit section: Adrenal insufficiency"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Treatment of the adrenal insufficiency that can accompany any of the common male phenotypes of ALD does not resolve any of the neurological symptoms. Hormone replacement is standard for ALD patients demonstrating adrenal insufficiency.<sup id="cite_ref-peroxleuk_29-0" class="reference"><a href="#cite_note-peroxleuk-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> Adrenal insufficiency does not resolve with successful transplant; most patients still require hormone replacement.<sup id="cite_ref-adrenalfunction_23-1" class="reference"><a href="#cite_note-adrenalfunction-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=12" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>ALD has not been shown to have an increased incidence in any specific country or ethnic group. In the United States, the incidence of affected males is estimated at 1:21,000. Overall incidence of <a href="/wiki/Hemizygote" class="mw-redirect" title="Hemizygote">hemizygous</a> males and <a href="/wiki/Heterozygote" class="mw-redirect" title="Heterozygote">carrier</a> females is estimated at 1:16,800.<sup id="cite_ref-genereviews_3-6" class="reference"><a href="#cite_note-genereviews-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> The reported incidence in France is estimated at 1:22,000.<sup id="cite_ref-scriver_1-10" class="reference"><a href="#cite_note-scriver-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Asymptomology">Asymptomology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=13" title="Edit section: Asymptomology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>There are documented asymptomatic males who present no ALD symptoms well into their 60s and 70s. It's not understood how they can have an ABCD1 gene variant and possess elevated VLCFAs and not exhibit either Cerebral ALD, Adrenal Insufficiency, or Adrenomyeloneuropathy symptoms. Daughters of asymptomatic males become obligate carriers, who may themselves be asymptomatic and who can pass the variant onto their children, which then silently perpetuates ALD. Sons of asymptomatic males only receive their father's Y chromosome and therefore can't inherit ALD.<sup id="cite_ref-30" class="reference"><a href="#cite_note-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Adrenoleukodystrophy&action=edit&section=14" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist reflist-columns references-column-width" style="column-width: 30em;"> <ol class="references"> <li id="cite_note-scriver-1"><span class="mw-cite-backlink">^ <a href="#cite_ref-scriver_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-scriver_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-scriver_1-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-scriver_1-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-scriver_1-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-scriver_1-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-scriver_1-6"><sup><i><b>g</b></i></sup></a> <a href="#cite_ref-scriver_1-7"><sup><i><b>h</b></i></sup></a> <a href="#cite_ref-scriver_1-8"><sup><i><b>i</b></i></sup></a> <a href="#cite_ref-scriver_1-9"><sup><i><b>j</b></i></sup></a> <a href="#cite_ref-scriver_1-10"><sup><i><b>k</b></i></sup></a></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFMoserSmithWatkinsPowers2001" class="citation book cs1">Moser, Hugo W.; Smith, Kirby D.; Watkins, Paul A.; Powers, James; Moser, Ann (2001). "131. X-Linked Adrenoleukodystrophy". In Scriver, C.W.; Beaudet, A.L.; Sly, W.S.; Valle, D.; Childs, B.; Kinzler, K.W.; Vogelstein, B. (eds.). <i>Metabolic and Molecular Bases of Inherited Disease</i>. Vol. 2 (8th ed.). New York: McGraw Hill. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-0-07-136320-4" title="Special:BookSources/978-0-07-136320-4"><bdi>978-0-07-136320-4</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=131.+X-Linked+Adrenoleukodystrophy&rft.btitle=Metabolic+and+Molecular+Bases+of+Inherited+Disease&rft.place=New+York&rft.edition=8th&rft.pub=McGraw+Hill&rft.date=2001&rft.isbn=978-0-07-136320-4&rft.aulast=Moser&rft.aufirst=Hugo+W.&rft.au=Smith%2C+Kirby+D.&rft.au=Watkins%2C+Paul+A.&rft.au=Powers%2C+James&rft.au=Moser%2C+Ann&rfr_id=info%3Asid%2Fen.wikipedia.org%3AAdrenoleukodystrophy" class="Z3988"></span></span> </li> <li id="cite_note-bergerreview-2"><span class="mw-cite-backlink">^ <a href="#cite_ref-bergerreview_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-bergerreview_2-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-bergerreview_2-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-bergerreview_2-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-bergerreview_2-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-bergerreview_2-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-bergerreview_2-6"><sup><i><b>g</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBergerGärtner2006" class="citation journal cs1">Berger, Johannes; Gärtner, Jutta (December 2006). "X-linked adrenoleukodystrophy: Clinical, biochemical and pathogenetic aspects". <i>Biochimica et Biophysica Acta (BBA) - Molecular Cell Research</i>. <b>1763</b> (12): 1721–1732. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.bbamcr.2006.07.010">10.1016/j.bbamcr.2006.07.010</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16949688">16949688</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Biochimica+et+Biophysica+Acta+%28BBA%29+-+Molecular+Cell+Research&rft.atitle=X-linked+adrenoleukodystrophy%3A+Clinical%2C+biochemical+and+pathogenetic+aspects&rft.volume=1763&rft.issue=12&rft.pages=1721-1732&rft.date=2006-12&rft_id=info%3Adoi%2F10.1016%2Fj.bbamcr.2006.07.010&rft_id=info%3Apmid%2F16949688&rft.aulast=Berger&rft.aufirst=Johannes&rft.au=G%C3%A4rtner%2C+Jutta&rfr_id=info%3Asid%2Fen.wikipedia.org%3AAdrenoleukodystrophy" class="Z3988"></span></span> </li> <li id="cite_note-genereviews-3"><span class="mw-cite-backlink">^ <a href="#cite_ref-genereviews_3-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-genereviews_3-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-genereviews_3-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-genereviews_3-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-genereviews_3-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-genereviews_3-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-genereviews_3-6"><sup><i><b>g</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRaymondMoserFatemi2023" class="citation book cs1">Raymond GV, Moser AB, Fatemi A (6 April 2023) [Originally published 26 March 1999]. "X-Linked Adrenoleukodystrophy". In Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJ, Stephens K, Amemiya A (eds.). <i>GeneReviews</i>. Seattle: University of Washington, Seattle. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/2372-0697">2372-0697</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301491">20301491</a>. National Library of Medicine Bookshelf ID NBK1315.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=X-Linked+Adrenoleukodystrophy&rft.btitle=GeneReviews&rft.place=Seattle&rft.pub=University+of+Washington%2C+Seattle&rft.date=2023-04-06&rft_id=info%3Apmid%2F20301491&rft.issn=2372-0697&rft.aulast=Raymond&rft.aufirst=GV&rft.au=Moser%2C+AB&rft.au=Fatemi%2C+A&rfr_id=info%3Asid%2Fen.wikipedia.org%3AAdrenoleukodystrophy" class="Z3988"></span></span> </li> <li id="cite_note-omim-4"><span class="mw-cite-backlink">^ <a href="#cite_ref-omim_4-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-omim_4-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://web.archive.org/web/20150924060356/http://www.omim.org/entry/300100?search=x-ald&highlight=xald">"#300100 - Adrenoleukodystrophy"</a>. Johns Hopkins University. Archived from <a rel="nofollow" class="external text" href="http://www.omim.org/entry/300100?search=x-ald&highlight=xald">the original</a> on 2015-09-24<span class="reference-accessdate">. Retrieved <span class="nowrap">2012-06-27</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=%23300100+-+Adrenoleukodystrophy&rft.pub=Johns+Hopkins+University&rft_id=http%3A%2F%2Fwww.omim.org%2Fentry%2F300100%3Fsearch%3Dx-ald%26highlight%3Dxald&rfr_id=info%3Asid%2Fen.wikipedia.org%3AAdrenoleukodystrophy" class="Z3988"></span></span> </li> <li id="cite_note-Hung2013-5"><span class="mw-cite-backlink"><b><a href="#cite_ref-Hung2013_5-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFHungWangKengChen2013" class="citation journal cs1">Hung, Kun-Long; Wang, Jinn-Shyan; Keng, Wee Teik; Chen, Hui-Ju; Liang, Jao-Shwann; Ngu, Lock Hock; Lu, Jyh-Feng (September 2013). "Mutational Analyses on X-Linked Adrenoleukodystrophy Reveal a Novel Cryptic Splicing and Three Missense Mutations in the ABCD1 Gene". <i>Pediatric Neurology</i>. <b>49</b> (3): 185–190. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.pediatrneurol.2013.04.021">10.1016/j.pediatrneurol.2013.04.021</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/23835273">23835273</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Pediatric+Neurology&rft.atitle=Mutational+Analyses+on+X-Linked+Adrenoleukodystrophy+Reveal+a+Novel+Cryptic+Splicing+and+Three+Missense+Mutations+in+the+ABCD1+Gene&rft.volume=49&rft.issue=3&rft.pages=185-190&rft.date=2013-09&rft_id=info%3Adoi%2F10.1016%2Fj.pediatrneurol.2013.04.021&rft_id=info%3Apmid%2F23835273&rft.aulast=Hung&rft.aufirst=Kun-Long&rft.au=Wang%2C+Jinn-Shyan&rft.au=Keng%2C+Wee+Teik&rft.au=Chen%2C+Hui-Ju&rft.au=Liang%2C+Jao-Shwann&rft.au=Ngu%2C+Lock+Hock&rft.au=Lu%2C+Jyh-Feng&rfr_id=info%3Asid%2Fen.wikipedia.org%3AAdrenoleukodystrophy" class="Z3988"></span></span> </li> <li id="cite_note-geno-6"><span class="mw-cite-backlink"><b><a href="#cite_ref-geno_6-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSmithKempBraitermanLu1999" class="citation journal cs1">Smith, Kirby D.; Kemp, Stephan; Braiterman, Lelita T.; Lu, Jyh-Feng; Wei, He-Ming; Geraghty, Michael; Stetten, Gail; Bergin, James S.; Pevsner, Jonathan; Watkins, Paul A. (1999). 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href="/wiki/National_Institute_of_Neurological_Disorders_and_Stroke" title="National Institute of Neurological Disorders and Stroke">NINDS</a></li> <li><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..ShowSection&rid=gnd.section.226">Adrenoleukodystrophy</a> at <a href="/wiki/National_Center_for_Biotechnology_Information" title="National Center for Biotechnology Information">National Center for Biotechnology Information</a></li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox .navbox{margin-top:0}.mw-parser-output .navbox+.navbox,.mw-parser-output .navbox+.navbox-styles+.navbox{margin-top:-1px}.mw-parser-output .navbox-inner,.mw-parser-output .navbox-subgroup{width:100%}.mw-parser-output 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ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q366964" class="extiw" title="d:Q366964">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/E71.3">E71.3</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=330.0">330.0</a>, <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=277.86">277.86</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/300100">300100</a> <a rel="nofollow" class="external text" href="https://omim.org/entry/202370">202370</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D000326">D000326</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb292.htm">292</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></b>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/001182.htm">001182</a></li><li><b><a href="/wiki/GeneReviews" title="GeneReviews">GeneReviews</a></b>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1315/">X-Linked Adrenoleukodystrophy</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Inborn_error_of_lipid_metabolism:_fatty-acid_metabolism_disorders" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Fatty-acid_metabolism_disorders" title="Template:Fatty-acid metabolism disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Fatty-acid_metabolism_disorders" title="Template talk:Fatty-acid metabolism disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Fatty-acid_metabolism_disorders" title="Special:EditPage/Template:Fatty-acid metabolism disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Inborn_error_of_lipid_metabolism:_fatty-acid_metabolism_disorders" style="font-size:114%;margin:0 4em"><a href="/wiki/Inborn_error_of_metabolism" class="mw-redirect" title="Inborn error of metabolism">Inborn error</a> of <a href="/wiki/Inborn_error_of_lipid_metabolism" title="Inborn error of lipid metabolism">lipid metabolism</a>: <a href="/wiki/Fatty-acid_metabolism_disorder" title="Fatty-acid metabolism disorder">fatty-acid metabolism disorders</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">Synthesis</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Biotinidase_deficiency" title="Biotinidase deficiency">Biotinidase deficiency</a> (BTD)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Degradation</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Fatty-acid_metabolism_disorder#Carnitine/transport" title="Fatty-acid metabolism disorder">Acyl<br />transport</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Carnitine" title="Carnitine">Carnitine</a></i> <ul><li><a href="/wiki/Carnitine_palmitoyltransferase_I_deficiency" title="Carnitine palmitoyltransferase I deficiency">CPT1</a></li> <li><a href="/wiki/Carnitine_palmitoyltransferase_II_deficiency" title="Carnitine palmitoyltransferase II deficiency">CPT2</a></li> <li><a href="/wiki/Systemic_primary_carnitine_deficiency" title="Systemic primary carnitine deficiency">CDSP</a></li> <li><a href="/wiki/Carnitine-acylcarnitine_translocase_deficiency" title="Carnitine-acylcarnitine translocase deficiency">CACTD</a></li></ul></li> <li><a class="mw-selflink selflink">Adrenoleukodystrophy</a> (ALD)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Beta_oxidation" title="Beta oxidation">Beta<br />oxidation</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">General</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Acyl_CoA_dehydrogenase" class="mw-redirect" title="Acyl CoA dehydrogenase">Acyl CoA dehydrogenase</a></i> <ul><li><a href="/wiki/Short-chain_acyl-coenzyme_A_dehydrogenase_deficiency" title="Short-chain acyl-coenzyme A dehydrogenase deficiency">Short-chain</a> SCADD</li> <li><a href="/wiki/Medium-chain_acyl-coenzyme_A_dehydrogenase_deficiency" title="Medium-chain acyl-coenzyme A dehydrogenase deficiency">Medium-chain</a> MCADD</li> <li><a href="/wiki/Long-chain_3-hydroxyacyl-coenzyme_A_dehydrogenase_deficiency" title="Long-chain 3-hydroxyacyl-coenzyme A dehydrogenase deficiency">Long-chain 3-hydroxy</a> LCHAD</li> <li><a href="/wiki/Very_long-chain_acyl-coenzyme_A_dehydrogenase_deficiency" title="Very long-chain acyl-coenzyme A dehydrogenase deficiency">Very long-chain</a> VLCADD</li></ul></li></ul> <ul><li><a href="/wiki/Mitochondrial_trifunctional_protein_deficiency" title="Mitochondrial trifunctional protein deficiency">Mitochondrial trifunctional protein deficiency</a> (MTPD): <a href="/wiki/Acute_fatty_liver_of_pregnancy" title="Acute fatty liver of pregnancy">Acute fatty liver of pregnancy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Beta_oxidation#β-Oxidation_of_unsaturated_fatty_acids" title="Beta oxidation">Unsaturated</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/2,4_Dienoyl-CoA_reductase_deficiency" title="2,4 Dienoyl-CoA reductase deficiency">2,4 Dienoyl-CoA reductase deficiency</a> (DECRD)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Beta_oxidation#β-Oxidation_of_odd-numbered_chains" title="Beta oxidation">Odd chain</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Propionic_acidemia" title="Propionic acidemia">Propionic acidemia</a> (PCC deficiency)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/3-hydroxyacyl-coenzyme_A_dehydrogenase_deficiency" title="3-hydroxyacyl-coenzyme A dehydrogenase deficiency">3-hydroxyacyl-coenzyme A dehydrogenase deficiency</a> (HADHD)</li> <li><a href="/wiki/Glutaric_acidemia_type_2" title="Glutaric acidemia type 2">Glutaric acidemia type 2</a> (MADD)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">To<br /><a href="/wiki/Acetyl-CoA" title="Acetyl-CoA">acetyl-CoA</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Malonyl-CoA_decarboxylase_deficiency" class="mw-redirect" title="Malonyl-CoA decarboxylase deficiency">Malonic aciduria</a> (MCD)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Aldehyde" title="Aldehyde">Aldehyde</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Sj%C3%B6gren%E2%80%93Larsson_syndrome" title="Sjögren–Larsson syndrome">Sjögren–Larsson syndrome</a> (SLS)</li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Genetic_disorder,_organelle:_Peroxisomal_disorders_and_lysosomal_structural_disorders" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Peroxisomal_disorders" title="Template:Peroxisomal disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Peroxisomal_disorders" title="Template talk:Peroxisomal disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Peroxisomal_disorders" title="Special:EditPage/Template:Peroxisomal disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Genetic_disorder,_organelle:_Peroxisomal_disorders_and_lysosomal_structural_disorders" style="font-size:114%;margin:0 4em"><a href="/wiki/Genetic_disorder" title="Genetic disorder">Genetic disorder</a>, organelle: <a href="/wiki/Peroxisomal_disorder" title="Peroxisomal disorder">Peroxisomal disorders</a> and lysosomal structural disorders</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Peroxisome_biogenesis_disorder" class="mw-redirect" title="Peroxisome biogenesis disorder">Peroxisome biogenesis disorder</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Zellweger_syndrome" title="Zellweger syndrome">Zellweger syndrome</a></li> <li><a href="/wiki/Neonatal_adrenoleukodystrophy" title="Neonatal adrenoleukodystrophy">Neonatal adrenoleukodystrophy</a></li> <li><a href="/wiki/Infantile_Refsum_disease" title="Infantile Refsum disease">Infantile Refsum disease</a></li> <li><a href="/wiki/Refsum_disease" title="Refsum disease">Adult Refsum disease-2</a></li> <li><a href="/wiki/Rhizomelic_chondrodysplasia_punctata" title="Rhizomelic chondrodysplasia punctata">RCP 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Enzyme-related</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Acatalasia" title="Acatalasia">Acatalasia</a></li> <li><a href="/wiki/Rhizomelic_chondrodysplasia_punctata" title="Rhizomelic chondrodysplasia punctata">RCP 2&3</a></li> <li><a href="/wiki/Mevalonate_kinase_deficiency" title="Mevalonate kinase deficiency">Mevalonate kinase deficiency</a></li> <li><a href="/wiki/D-bifunctional_protein_deficiency" title="D-bifunctional protein deficiency">D-bifunctional protein deficiency</a></li> <li><a href="/wiki/Refsum_disease" title="Refsum disease">Adult Refsum disease-1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Transporter-related</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a class="mw-selflink selflink">X-linked adrenoleukodystrophy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Lysosomal</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Danon_disease" title="Danon disease">Danon disease</a></li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>See also: <a href="/wiki/Template:Peroxisomal_proteins" title="Template:Peroxisomal proteins">proteins</a>, <a href="/wiki/Template:Peroxisomal_metabolism_intermediates" class="mw-redirect" title="Template:Peroxisomal metabolism intermediates">intermediates</a></i></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Demyelinating_diseases_of_the_central_nervous_system" style="padding:3px"><table class="nowraplinks hlist mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Demyelinating_diseases_of_CNS" title="Template:Demyelinating diseases of CNS"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Demyelinating_diseases_of_CNS" title="Template talk:Demyelinating diseases of CNS"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Demyelinating_diseases_of_CNS" title="Special:EditPage/Template:Demyelinating diseases of CNS"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Demyelinating_diseases_of_the_central_nervous_system" style="font-size:114%;margin:0 4em">Demyelinating diseases of the <a href="/wiki/Central_nervous_system" title="Central nervous system">central nervous system</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Signs_and_symptoms_of_multiple_sclerosis" title="Signs and symptoms of multiple sclerosis">Signs and symptoms</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ataxia" title="Ataxia">Ataxia</a></li> <li><a href="/wiki/Major_depressive_disorder" title="Major depressive disorder">Depression</a></li> <li><a href="/wiki/Diplopia" title="Diplopia">Diplopia</a></li> <li><a href="/wiki/Dysarthria" title="Dysarthria">Dysarthria</a></li> <li><a href="/wiki/Dysphagia" title="Dysphagia">Dysphagia</a></li> <li><a href="/wiki/Fatigue" title="Fatigue">Fatigue</a></li> <li><a href="/wiki/Urinary_incontinence" title="Urinary incontinence">Incontinence</a></li> <li><a href="/wiki/Nystagmus" title="Nystagmus">Nystagmus</a></li> <li><a href="/wiki/Optic_neuritis" title="Optic neuritis">Optic neuritis</a></li> <li><a href="/wiki/Pain" title="Pain">Pain</a></li> <li><a href="/wiki/Uhthoff%27s_phenomenon" title="Uhthoff's phenomenon">Uhthoff's phenomenon</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Investigations and diagnosis</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Diagnosis_of_multiple_sclerosis" title="Diagnosis of multiple sclerosis">Diagnosis of multiple sclerosis</a> <ul><li><a href="/wiki/McDonald_criteria" title="McDonald criteria">McDonald criteria</a></li></ul></li> <li><a href="/wiki/Poser_criteria" title="Poser criteria">Poser criteria</a></li></ul> <ul><li>Clinical <ul><li><a href="/wiki/Clinically_isolated_syndrome" title="Clinically isolated syndrome">Clinically isolated syndrome</a></li> <li><a href="/wiki/Expanded_Disability_Status_Scale" title="Expanded Disability Status Scale">Expanded Disability Status Scale</a></li></ul></li> <li>Serological and CSF <ul><li><a href="/wiki/Oligoclonal_band" title="Oligoclonal band">Oligoclonal bands</a></li></ul></li> <li>Radiological <ul><li><a href="/wiki/Radiologically_isolated_syndrome" title="Radiologically isolated syndrome">Radiologically isolated syndrome</a></li> <li><a href="/wiki/Lesional_demyelinations_of_the_central_nervous_system" title="Lesional demyelinations of the central nervous system">Lesional demyelinations of the central nervous system</a></li> <li><a href="/wiki/Dawson%27s_fingers" class="mw-redirect" title="Dawson's fingers">Dawson's fingers</a></li></ul></li> <li><a href="/wiki/Frexalimab" title="Frexalimab">Frexalimab</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Approved treatment</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Management_of_multiple_sclerosis" title="Management of multiple sclerosis">Management of multiple sclerosis</a></li> <li><a href="/wiki/Alemtuzumab" title="Alemtuzumab">Alemtuzumab</a></li> <li><a href="/wiki/Cladribine" title="Cladribine">Cladribine</a></li> <li><a href="/wiki/Dimethyl_fumarate" title="Dimethyl fumarate">Dimethyl fumarate</a></li> <li><a href="/wiki/Diroximel_fumarate" title="Diroximel fumarate">Diroximel fumarate</a></li> <li><a href="/wiki/Fingolimod" title="Fingolimod">Fingolimod</a></li> <li><a href="/wiki/Glatiramer_acetate" title="Glatiramer acetate">Glatiramer acetate</a></li> <li><a href="/wiki/Interferon_beta-1a" title="Interferon beta-1a">Interferon beta-1a</a></li> <li><a href="/wiki/Interferon_beta-1b" title="Interferon beta-1b">Interferon beta-1b</a></li> <li><a href="/wiki/Laquinimod" title="Laquinimod">Laquinimod</a></li> <li><a href="/wiki/Mitoxantrone" title="Mitoxantrone">Mitoxantrone</a></li> <li><a href="/wiki/Monomethyl_fumarate" title="Monomethyl fumarate">Monomethyl fumarate</a></li> <li><a href="/wiki/Natalizumab" title="Natalizumab">Natalizumab</a></li> <li><a href="/wiki/Ocrelizumab" title="Ocrelizumab">Ocrelizumab</a> (<a href="/wiki/Ocrelizumab/hyaluronidase" title="Ocrelizumab/hyaluronidase">+hyaluronidase</a>)</li> <li><a href="/wiki/Ozanimod" title="Ozanimod">Ozanimod</a></li> <li><a href="/wiki/Ponesimod" title="Ponesimod">Ponesimod</a></li> <li><a href="/wiki/Siponimod" title="Siponimod">Siponimod</a></li> <li><a href="/wiki/Teriflunomide" title="Teriflunomide">Teriflunomide</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other treatments</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li>Former <ul><li><a href="/wiki/Daclizumab" title="Daclizumab">Daclizumab</a></li></ul></li> <li><a href="/wiki/Research_in_multiple_sclerosis" title="Research in multiple sclerosis">Research in multiple sclerosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Demyelinating diseases</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/CNS_demyelinating_autoimmune_diseases" title="CNS demyelinating autoimmune diseases">Autoimmune</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Neuromyelitis_optica_spectrum_disorder" title="Neuromyelitis optica spectrum disorder">Neuromyelitis optica spectrum disorder</a></li> <li><a href="/wiki/Diffuse_myelinoclastic_sclerosis" title="Diffuse myelinoclastic sclerosis">Diffuse myelinoclastic sclerosis</a></li> <li><a href="/wiki/MOG_antibody_disease" title="MOG antibody disease">MOG antibody disease</a></li> <li><a href="/wiki/Multiple_sclerosis" title="Multiple sclerosis">Multiple sclerosis</a></li> <li><a href="/wiki/Chronic_inflammatory_demyelinating_polyneuropathy" title="Chronic inflammatory demyelinating polyneuropathy">Chronic inflammatory demyelinating polyneuropathy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Inflammatory_demyelinating_diseases_of_the_central_nervous_system" title="Inflammatory demyelinating diseases of the central nervous system">Inflammatory</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Acute_disseminated_encephalomyelitis" title="Acute disseminated encephalomyelitis">Acute disseminated encephalomyelitis</a></li> <li><a href="/wiki/Balo_concentric_sclerosis" title="Balo concentric sclerosis">Balo concentric sclerosis</a></li> <li><a href="/wiki/Marburg_acute_multiple_sclerosis" title="Marburg acute multiple sclerosis">Marburg acute multiple sclerosis</a></li> <li><a href="/wiki/Neuromyelitis_optica_spectrum_disorder" title="Neuromyelitis optica spectrum disorder">Neuromyelitis optica spectrum disorder</a></li> <li><a href="/wiki/Diffuse_myelinoclastic_sclerosis" title="Diffuse myelinoclastic sclerosis">Diffuse myelinoclastic sclerosis</a></li> <li><a href="/wiki/Tumefactive_multiple_sclerosis" title="Tumefactive multiple sclerosis">Tumefactive multiple sclerosis</a></li> <li><a href="/wiki/Experimental_autoimmune_encephalomyelitis" title="Experimental autoimmune encephalomyelitis">Experimental autoimmune encephalomyelitis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hereditary_CNS_demyelinating_disease" title="Hereditary CNS demyelinating disease">Hereditary</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a class="mw-selflink selflink">Adrenoleukodystrophy</a></li> <li><a href="/wiki/Alexander_disease" title="Alexander disease">Alexander disease</a></li> <li><a href="/wiki/Canavan_disease" title="Canavan disease">Canavan disease</a></li> <li><a href="/wiki/Krabbe_disease" title="Krabbe disease">Krabbe disease</a></li> <li><a href="/wiki/Metachromatic_leukodystrophy" title="Metachromatic leukodystrophy">Metachromatic leukodystrophy</a></li> <li><a href="/wiki/Pelizaeus%E2%80%93Merzbacher_disease" title="Pelizaeus–Merzbacher disease">Pelizaeus–Merzbacher disease</a></li> <li><a href="/wiki/Leukoencephalopathy_with_vanishing_white_matter" title="Leukoencephalopathy with vanishing white matter">Leukoencephalopathy with vanishing white matter</a></li> <li><a href="/wiki/Megalencephalic_leukoencephalopathy_with_subcortical_cysts" title="Megalencephalic leukoencephalopathy with subcortical cysts">Megalencephalic leukoencephalopathy with subcortical cysts</a></li> <li><a href="/wiki/CAMFAK_syndrome" title="CAMFAK syndrome">CAMFAK syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Central_pontine_myelinolysis" title="Central pontine myelinolysis">Central pontine myelinolysis</a></li> <li><a href="/wiki/Marchiafava%E2%80%93Bignami_disease" title="Marchiafava–Bignami disease">Marchiafava–Bignami disease</a></li> <li><a href="/wiki/Mitochondrial_DNA_depletion_syndrome" title="Mitochondrial DNA depletion syndrome">Mitochondrial DNA depletion syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/List_of_multiple_sclerosis_organizations" title="List of multiple sclerosis organizations">List of multiple sclerosis organizations</a></li> <li><a href="/wiki/List_of_people_with_multiple_sclerosis" title="List of people with multiple sclerosis">List of people with multiple sclerosis</a></li> <li><a href="/wiki/Multiple_sclerosis_drug_pipeline" title="Multiple sclerosis drug pipeline">Multiple sclerosis drug pipeline</a></li> <li><a href="/wiki/Pathophysiology_of_multiple_sclerosis" title="Pathophysiology of multiple sclerosis">Pathophysiology</a></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="X-linked_disorders" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:X-linked_disorders" title="Template:X-linked disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:X-linked_disorders" title="Template talk:X-linked disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:X-linked_disorders" title="Special:EditPage/Template:X-linked disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="X-linked_disorders" style="font-size:114%;margin:0 4em"><a href="/wiki/Sex_linkage" title="Sex linkage">X-linked</a> disorders</div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><div id="X-linked_recessive" style="font-size:114%;margin:0 4em"><a href="/wiki/X-linked_recessive_inheritance" title="X-linked recessive inheritance">X-linked recessive</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Immune_disorder" title="Immune disorder">Immune</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Chronic_granulomatous_disease" title="Chronic granulomatous disease">Chronic granulomatous disease (CYBB)</a></li> <li><a href="/wiki/Wiskott%E2%80%93Aldrich_syndrome" title="Wiskott–Aldrich syndrome">Wiskott–Aldrich syndrome</a></li> <li><a href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-linked severe combined immunodeficiency</a></li> <li><a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_1" title="Hyper-IgM syndrome type 1">Hyper-IgM syndrome type 1</a></li> <li><a href="/wiki/IPEX_syndrome" title="IPEX syndrome">IPEX</a></li> <li><a href="/wiki/X-linked_lymphoproliferative_disease" title="X-linked lymphoproliferative disease">X-linked lymphoproliferative disease</a></li> <li><a href="/wiki/Properdin_deficiency" title="Properdin deficiency">Properdin deficiency</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hematologic_disease" title="Hematologic disease">Hematologic</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Haemophilia_A" title="Haemophilia A">Haemophilia A</a></li> <li><a href="/wiki/Haemophilia_B" title="Haemophilia B">Haemophilia B</a></li> <li><a href="/wiki/Sideroblastic_anemia" title="Sideroblastic anemia">X-linked sideroblastic anemia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Endocrine_disease" title="Endocrine disease">Endocrine</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Androgen_insensitivity_syndrome" title="Androgen insensitivity syndrome">Androgen insensitivity syndrome</a>/<a href="/wiki/Spinal_and_bulbar_muscular_atrophy" title="Spinal and bulbar muscular atrophy">Spinal and bulbar muscular atrophy</a></li> <li><a href="/wiki/Kallmann_syndrome" title="Kallmann syndrome">KAL1 Kallmann syndrome</a></li> <li><a href="/wiki/X-linked_adrenal_hypoplasia_congenita" title="X-linked adrenal hypoplasia congenita">X-linked adrenal hypoplasia congenita</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Metabolic_disorder" title="Metabolic disorder">Metabolic</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Congenital_disorders_of_amino_acid_metabolism" title="Congenital disorders of amino acid metabolism">Amino acid</a>:</i> <a href="/wiki/Ornithine_transcarbamylase_deficiency" title="Ornithine transcarbamylase deficiency">Ornithine transcarbamylase deficiency</a></li> <li><a href="/wiki/Oculocerebrorenal_syndrome" title="Oculocerebrorenal syndrome">Oculocerebrorenal syndrome</a></li></ul> <ul><li><i><a href="/wiki/Dyslipidemia" title="Dyslipidemia">Dyslipidemia</a>:</i> <a class="mw-selflink selflink">Adrenoleukodystrophy</a></li></ul> <ul><li><i><a href="/wiki/Carbohydrate_metabolism" title="Carbohydrate metabolism">Carbohydrate metabolism</a>:</i> <a href="/wiki/Glucose-6-phosphate_dehydrogenase_deficiency" title="Glucose-6-phosphate dehydrogenase deficiency">Glucose-6-phosphate dehydrogenase deficiency</a></li> <li><a href="/wiki/Pyruvate_dehydrogenase_deficiency" title="Pyruvate dehydrogenase deficiency">Pyruvate dehydrogenase deficiency</a></li> <li><a href="/wiki/Danon_disease" title="Danon disease">Danon disease/glycogen storage disease Type IIb</a></li></ul> <ul><li><i><a href="/wiki/Lipid_storage_disorder" title="Lipid storage disorder">Lipid storage disorder</a></i>: <a href="/wiki/Fabry_disease" title="Fabry disease">Fabry disease</a></li></ul> <ul><li><i><a href="/wiki/Mucopolysaccharidosis" title="Mucopolysaccharidosis">Mucopolysaccharidosis</a>:</i> <a href="/wiki/Hunter_syndrome" title="Hunter syndrome">Hunter syndrome</a></li></ul> <ul><li><i><a href="/wiki/Inborn_errors_of_purine%E2%80%93pyrimidine_metabolism" title="Inborn errors of purine–pyrimidine metabolism">Purine–pyrimidine metabolism</a>:</i> <a href="/wiki/Lesch%E2%80%93Nyhan_syndrome" title="Lesch–Nyhan syndrome">Lesch–Nyhan syndrome</a></li></ul> <ul><li><i><a href="/wiki/Mineral_(nutrient)" title="Mineral (nutrient)">Mineral</a>:</i> <a href="/wiki/Menkes_disease" title="Menkes disease">Menkes disease</a>/<a href="/wiki/Occipital_horn_syndrome" title="Occipital horn syndrome">Occipital horn syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Nervous_system_disease" title="Nervous system disease">Nervous system</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/X-linked_intellectual_disability" title="X-linked intellectual disability">X-linked intellectual disability</a>:</i> <a href="/wiki/Coffin%E2%80%93Lowry_syndrome" title="Coffin–Lowry syndrome">Coffin–Lowry syndrome</a></li> <li><a href="/wiki/MASA_syndrome" title="MASA syndrome">MASA syndrome</a></li> <li><a href="/wiki/Alpha-thalassemia_mental_retardation_syndrome" class="mw-redirect" title="Alpha-thalassemia mental retardation syndrome">Alpha-thalassemia mental retardation syndrome</a></li> <li><a href="/wiki/PHF8" title="PHF8">PHF8</a></li></ul> <ul><li><i>Eye disorders:</i> <a href="/wiki/Color_blindness#Genetic_modes_of_inheritance" title="Color blindness">Color blindness (red and green, but not blue)</a></li> <li><a href="/wiki/Ocular_albinism" title="Ocular albinism">Ocular albinism</a> (<a href="/wiki/Ocular_albinism_type_1" title="Ocular albinism type 1">1</a>)</li> <li><a href="/wiki/Norrie_disease" title="Norrie disease">Norrie disease</a></li> <li><a href="/wiki/Choroideremia" title="Choroideremia">Choroideremia</a></li></ul> <ul><li><i>Other:</i> <a href="/wiki/Charcot%E2%80%93Marie%E2%80%93Tooth_disease" title="Charcot–Marie–Tooth disease">Charcot–Marie–Tooth disease (CMTX2-3)</a></li> <li><a href="/wiki/Pelizaeus%E2%80%93Merzbacher_disease" title="Pelizaeus–Merzbacher disease">Pelizaeus–Merzbacher disease</a></li> <li><a href="/wiki/X-linked_spinal_muscular_atrophy_type_2" title="X-linked spinal muscular atrophy type 2">SMAX2</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Skin_condition" title="Skin condition">Skin</a> and related tissue</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Dyskeratosis_congenita" title="Dyskeratosis congenita">Dyskeratosis congenita</a></li> <li><a href="/wiki/Hypohidrotic_ectodermal_dysplasia" title="Hypohidrotic ectodermal dysplasia">Hypohidrotic ectodermal dysplasia (EDA)</a></li> <li><a href="/wiki/X-linked_ichthyosis" title="X-linked ichthyosis">X-linked ichthyosis</a></li> <li><a href="/wiki/X-linked_endothelial_corneal_dystrophy" title="X-linked endothelial corneal dystrophy">X-linked endothelial corneal dystrophy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Neuromuscular_disease" title="Neuromuscular disease">Neuromuscular</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Becker_muscular_dystrophy" title="Becker muscular dystrophy">Becker muscular dystrophy</a>/<a href="/wiki/Duchenne_muscular_dystrophy" title="Duchenne muscular dystrophy">Duchenne</a></li> <li><a href="/wiki/Centronuclear_myopathy" title="Centronuclear myopathy">Centronuclear myopathy (MTM1)</a></li> <li><a href="/wiki/Conradi%E2%80%93H%C3%BCnermann_syndrome" title="Conradi–Hünermann syndrome">Conradi–Hünermann syndrome</a></li> <li><a href="/wiki/Emery%E2%80%93Dreifuss_muscular_dystrophy" title="Emery–Dreifuss muscular dystrophy">Emery–Dreifuss muscular dystrophy 1</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Urologic_disease" title="Urologic disease">Urologic</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Alport_syndrome" title="Alport syndrome">Alport syndrome</a></li> <li><a href="/wiki/Dent%27s_disease" title="Dent's disease">Dent's disease</a></li> <li><a href="/wiki/Nephrogenic_diabetes_insipidus" title="Nephrogenic diabetes insipidus">X-linked nephrogenic diabetes insipidus</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Bone" title="Bone">Bone</a>/<a href="/wiki/Tooth" title="Tooth">tooth</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Amelogenesis_imperfecta" title="Amelogenesis imperfecta">AMELX Amelogenesis imperfecta</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">No primary system</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Barth_syndrome" title="Barth syndrome">Barth syndrome</a></li> <li><a href="/wiki/McLeod_syndrome" title="McLeod syndrome">McLeod syndrome</a></li> <li><a href="/wiki/Smith%E2%80%93Fineman%E2%80%93Myers_syndrome" title="Smith–Fineman–Myers syndrome">Smith–Fineman–Myers syndrome</a></li> <li><a href="/wiki/Simpson%E2%80%93Golabi%E2%80%93Behmel_syndrome" title="Simpson–Golabi–Behmel syndrome">Simpson–Golabi–Behmel syndrome</a></li> <li><a href="/wiki/Mohr%E2%80%93Tranebj%C3%A6rg_syndrome" title="Mohr–Tranebjærg syndrome">Mohr–Tranebjærg syndrome</a></li> <li><a href="/wiki/Nasodigitoacoustic_syndrome" title="Nasodigitoacoustic syndrome">Nasodigitoacoustic syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><div id="X-linked_dominant" style="font-size:114%;margin:0 4em"><a href="/wiki/X-linked_dominant_inheritance" title="X-linked dominant inheritance">X-linked dominant</a></div></th></tr><tr><td colspan="2" class="navbox-list navbox-odd hlist ;" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/X-linked_hypophosphatemia" title="X-linked hypophosphatemia">X-linked hypophosphatemia</a></li> <li><a href="/wiki/Focal_dermal_hypoplasia" title="Focal dermal hypoplasia">Focal dermal hypoplasia</a></li> <li><a href="/wiki/Fragile_X_syndrome" title="Fragile X syndrome">Fragile X syndrome</a></li> <li><a href="/wiki/Aicardi_syndrome" title="Aicardi syndrome">Aicardi syndrome</a></li> <li><a href="/wiki/Incontinentia_pigmenti" title="Incontinentia pigmenti">Incontinentia pigmenti</a></li> <li><a href="/wiki/Rett_syndrome" title="Rett syndrome">Rett syndrome</a></li> <li><a href="/wiki/CHILD_syndrome" title="CHILD syndrome">CHILD syndrome</a></li> <li><a href="/wiki/Lujan%E2%80%93Fryns_syndrome" title="Lujan–Fryns syndrome">Lujan–Fryns syndrome</a></li> <li><a href="/wiki/Orofaciodigital_syndrome_1" title="Orofaciodigital syndrome 1">Orofaciodigital syndrome 1</a></li> <li><a href="/wiki/Craniofrontonasal_dysplasia" title="Craniofrontonasal dysplasia">Craniofrontonasal dysplasia</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Genetic_disorder,_membrane:_ABC_transporter_disorders" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:ABC_transporter_disorders" title="Template:ABC transporter disorders"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:ABC_transporter_disorders" title="Template talk:ABC transporter disorders"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:ABC_transporter_disorders" title="Special:EditPage/Template:ABC transporter disorders"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Genetic_disorder,_membrane:_ABC_transporter_disorders" style="font-size:114%;margin:0 4em"><a href="/wiki/Genetic_disorder" title="Genetic disorder">Genetic disorder</a>, membrane: <a href="/wiki/ABC_transporter" title="ABC transporter">ABC transporter</a> disorders</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">ABCA</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ABCA1" title="ABCA1">ABCA1</a></i> (<a href="/wiki/Tangier_disease" title="Tangier disease">Tangier disease</a>)</li> <li><i><a href="/wiki/ABCA3" title="ABCA3">ABCA3</a></i> (<a href="/wiki/Surfactant_metabolism_dysfunction" title="Surfactant metabolism dysfunction">Surfactant metabolism dysfunction 3</a>)</li> <li><i><a href="/wiki/ABCA4" title="ABCA4">ABCA4</a></i> (<a href="/wiki/Stargardt_disease" title="Stargardt disease">Stargardt disease 1</a>, <a href="/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa">Retinitis pigmentosa 19</a>)</li> <li><i><a href="/wiki/ABCA12" title="ABCA12">ABCA12</a></i> (<a href="/wiki/Harlequin-type_ichthyosis" title="Harlequin-type ichthyosis">Harlequin-type ichthyosis</a>, <a href="/wiki/Lamellar_ichthyosis" title="Lamellar ichthyosis">Lamellar ichthyosis 2</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ABCB</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ABCB4" title="ABCB4">ABCB4</a></i> (<a href="/wiki/Progressive_familial_intrahepatic_cholestasis" title="Progressive familial intrahepatic cholestasis">Progressive familial intrahepatic cholestasis 3</a>)</li> <li><i><a href="/wiki/ABCB7" title="ABCB7">ABCB7</a></i> (<a href="/wiki/Sideroblastic_anemia" title="Sideroblastic anemia">ASAT</a>)</li> <li><i><a href="/wiki/ABCB11" title="ABCB11">ABCB11</a></i> (<a href="/wiki/Progressive_familial_intrahepatic_cholestasis" title="Progressive familial intrahepatic cholestasis">Progressive familial intrahepatic cholestasis 2</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ABCC</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ABCC2" class="mw-redirect" title="ABCC2">ABCC2</a></i> (<a href="/wiki/Dubin%E2%80%93Johnson_syndrome" title="Dubin–Johnson syndrome">Dubin–Johnson syndrome</a>)</li> <li><i><a href="/wiki/ABCC6" title="ABCC6">ABCC6</a></i> (<a href="/wiki/Pseudoxanthoma_elasticum" title="Pseudoxanthoma elasticum">Pseudoxanthoma elasticum</a>)</li> <li><i><a href="/wiki/ABCC7" class="mw-redirect" title="ABCC7">ABCC7</a></i> (<a href="/wiki/Cystic_fibrosis" title="Cystic fibrosis">Cystic fibrosis</a>)</li> <li><i><a href="/wiki/ABCC8" title="ABCC8">ABCC8</a></i> (<a href="/wiki/Hyperinsulinemic_hypoglycemia" title="Hyperinsulinemic hypoglycemia">HHF1</a>, <a href="/wiki/Transient_neonatal_diabetes_mellitus" class="mw-redirect" title="Transient neonatal diabetes mellitus">TNDM2</a>)</li> <li><i><a href="/wiki/ABCC9" title="ABCC9">ABCC9</a></i> (<a href="/wiki/Dilated_cardiomyopathy" title="Dilated cardiomyopathy">Dilated cardiomyopathy 1O</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ABCD</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ABCD1" title="ABCD1">ABCD1</a></i> (<a class="mw-selflink selflink">Adrenoleukodystrophy</a>, <a href="/wiki/Adrenomyeloneuropathy" class="mw-redirect" title="Adrenomyeloneuropathy">Adrenomyeloneuropathy</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">ABCG</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/ABCG5" title="ABCG5">ABCG5</a></i> (<a href="/wiki/Sitosterolemia" title="Sitosterolemia">Sitosterolemia</a>)</li> <li><i><a href="/wiki/ABCG8" title="ABCG8">ABCG8</a></i> (<a href="/wiki/Gallbladder_disease" title="Gallbladder disease">Gallbladder disease</a> 4, <a href="/wiki/Sitosterolemia" title="Sitosterolemia">Sitosterolemia</a>)</li></ul> </div></td></tr><tr><td class="navbox-abovebelow" colspan="2"><div><i>see also <a href="/wiki/Template:ABC_transporters" title="Template:ABC transporters">ABC transporters</a></i></div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=Adrenoleukodystrophy&oldid=1252075515">https://en.wikipedia.org/w/index.php?title=Adrenoleukodystrophy&oldid=1252075515</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a href="/wiki/Help:Category" title="Help:Category">Categories</a>: <ul><li><a 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