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<div class="vector-toc-text"> <span class="vector-toc-numb">1.4</span> <span>Skin</span> </div> </a> <ul id="toc-Skin-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Other_manifestations" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Other_manifestations"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.5</span> <span>Other manifestations</span> </div> </a> <ul id="toc-Other_manifestations-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Causes" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Causes"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Causes</span> </div> </a> <ul id="toc-Causes-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Mechanism" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Mechanism"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Mechanism</span> </div> </a> <ul id="toc-Mechanism-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-Treatment" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Treatment"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Treatment</span> </div> </a> <button aria-controls="toc-Treatment-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 Treatment subsection</span> </button> <ul id="toc-Treatment-sublist" class="vector-toc-list"> <li id="toc-Therapies_targeting_enzyme_activity" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Therapies_targeting_enzyme_activity"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.1</span> <span>Therapies targeting enzyme activity</span> </div> </a> <ul id="toc-Therapies_targeting_enzyme_activity-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Organ-specific_treatment" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Organ-specific_treatment"> <div class="vector-toc-text"> <span class="vector-toc-numb">5.2</span> <span>Organ-specific treatment</span> </div> </a> <ul id="toc-Organ-specific_treatment-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Prognosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Prognosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>Prognosis</span> </div> </a> <ul id="toc-Prognosis-sublist" class="vector-toc-list"> </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">7</span> <span>Epidemiology</span> </div> </a> <ul id="toc-Epidemiology-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Research" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Research"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>Research</span> </div> </a> <ul id="toc-Research-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-History" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#History"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>History</span> </div> </a> <ul id="toc-History-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Society_and_culture" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Society_and_culture"> <div class="vector-toc-text"> <span class="vector-toc-numb">10</span> <span>Society and culture</span> </div> </a> <ul id="toc-Society_and_culture-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">11</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Further_reading" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Further_reading"> <div class="vector-toc-text"> <span class="vector-toc-numb">12</span> <span>Further reading</span> </div> </a> <ul id="toc-Further_reading-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">13</span> <span>External links</span> </div> </a> <ul id="toc-External_links-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Contents" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" title="Table of Contents" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" 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Available in 27 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-27" 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">27 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/%D9%85%D8%B1%D8%B6_%D9%81%D8%A7%D8%A8%D8%B1%D9%8A" title="مرض فابري – Arabic" lang="ar" hreflang="ar" data-title="مرض فابري" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Malaltia_de_Fabry" title="Malaltia de Fabry – Catalan" lang="ca" hreflang="ca" data-title="Malaltia de Fabry" data-language-autonym="Català" data-language-local-name="Catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-de badge-Q17437796 badge-featuredarticle mw-list-item" title="featured article badge"><a href="https://de.wikipedia.org/wiki/Morbus_Fabry" title="Morbus Fabry – German" lang="de" hreflang="de" data-title="Morbus Fabry" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-et mw-list-item"><a href="https://et.wikipedia.org/wiki/Fabry_t%C3%B5bi" title="Fabry tõbi – Estonian" lang="et" hreflang="et" data-title="Fabry tõbi" data-language-autonym="Eesti" data-language-local-name="Estonian" class="interlanguage-link-target"><span>Eesti</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Enfermedad_de_Fabry" title="Enfermedad de Fabry – Spanish" lang="es" hreflang="es" data-title="Enfermedad de Fabry" 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%A8%DB%8C%D9%85%D8%A7%D8%B1%DB%8C_%D9%81%D8%A7%D8%A8%D8%B1%DB%8C" title="بیماری فابری – Persian" lang="fa" hreflang="fa" data-title="بیماری فابری" 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/Maladie_de_Fabry" title="Maladie de Fabry – French" lang="fr" hreflang="fr" data-title="Maladie de Fabry" 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/Doenza_de_Fabry" title="Doenza de Fabry – Galician" lang="gl" hreflang="gl" data-title="Doenza de Fabry" 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/%ED%8C%8C%EB%B8%8C%EB%A6%AC%EB%B3%91" title="파브리병 – Korean" lang="ko" hreflang="ko" data-title="파브리병" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-hy mw-list-item"><a href="https://hy.wikipedia.org/wiki/%D5%96%D5%A1%D5%A2%D6%80%D5%AB%D5%AB_%D5%B0%D5%AB%D5%BE%D5%A1%D5%B6%D5%A4%D5%B8%D6%82%D5%A9%D5%B5%D5%B8%D6%82%D5%B6" title="Ֆաբրիի հիվանդություն – Armenian" lang="hy" hreflang="hy" data-title="Ֆաբրիի հիվանդություն" data-language-autonym="Հայերեն" data-language-local-name="Armenian" class="interlanguage-link-target"><span>Հայերեն</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Malattia_di_Fabry" title="Malattia di Fabry – Italian" lang="it" hreflang="it" data-title="Malattia di Fabry" 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/%D7%9E%D7%97%D7%9C%D7%AA_%D7%A4%D7%91%D7%A8%D7%99" title="מחלת פברי – Hebrew" lang="he" hreflang="he" data-title="מחלת פברי" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-mk mw-list-item"><a href="https://mk.wikipedia.org/wiki/%D0%A4%D0%B0%D0%B1%D1%80%D0%B8%D0%B5%D0%B2%D0%B0_%D0%B1%D0%BE%D0%BB%D0%B5%D1%81%D1%82" title="Фабриева болест – Macedonian" lang="mk" hreflang="mk" data-title="Фабриева болест" data-language-autonym="Македонски" data-language-local-name="Macedonian" class="interlanguage-link-target"><span>Македонски</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Ziekte_van_Fabry" title="Ziekte van Fabry – Dutch" lang="nl" hreflang="nl" data-title="Ziekte van Fabry" 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/%E3%83%95%E3%82%A1%E3%83%96%E3%83%AA%E3%83%BC%E7%97%85" title="ファブリー病 – Japanese" lang="ja" hreflang="ja" data-title="ファブリー病" 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-uz mw-list-item"><a href="https://uz.wikipedia.org/wiki/Fabri_kasalligi" title="Fabri kasalligi – Uzbek" lang="uz" hreflang="uz" data-title="Fabri kasalligi" data-language-autonym="Oʻzbekcha / ўзбекча" data-language-local-name="Uzbek" class="interlanguage-link-target"><span>Oʻzbekcha / ўзбекча</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Choroba_Fabry%E2%80%99ego" title="Choroba Fabry’ego – Polish" lang="pl" hreflang="pl" data-title="Choroba Fabry’ego" 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/Doen%C3%A7a_de_Fabry" title="Doença de Fabry – Portuguese" lang="pt" hreflang="pt" data-title="Doença de Fabry" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%91%D0%BE%D0%BB%D0%B5%D0%B7%D0%BD%D1%8C_%D0%A4%D0%B0%D0%B1%D1%80%D0%B8" title="Болезнь Фабри – Russian" lang="ru" hreflang="ru" data-title="Болезнь Фабри" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sl mw-list-item"><a href="https://sl.wikipedia.org/wiki/Fabryjeva_bolezen" title="Fabryjeva bolezen – Slovenian" lang="sl" hreflang="sl" data-title="Fabryjeva bolezen" data-language-autonym="Slovenščina" data-language-local-name="Slovenian" class="interlanguage-link-target"><span>Slovenščina</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%A4%D0%B0%D0%B1%D1%80%D0%B8%D1%98%D0%B5%D0%B2%D0%B0_%D0%B1%D0%BE%D0%BB%D0%B5%D1%81%D1%82" title="Фабријева болест – Serbian" lang="sr" hreflang="sr" data-title="Фабријева болест" 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/Fabryn_tauti" title="Fabryn tauti – Finnish" lang="fi" hreflang="fi" data-title="Fabryn tauti" 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/Anderson-Fabrys_sjukdom" title="Anderson-Fabrys sjukdom – Swedish" lang="sv" hreflang="sv" data-title="Anderson-Fabrys sjukdom" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-tt mw-list-item"><a href="https://tt.wikipedia.org/wiki/%D0%A4%D0%B0%D0%B1%D1%80%D0%B8_%D1%87%D0%B8%D1%80%D0%B5" title="Фабри чире – Tatar" lang="tt" hreflang="tt" data-title="Фабри чире" data-language-autonym="Татарча / tatarça" data-language-local-name="Tatar" class="interlanguage-link-target"><span>Татарча / tatarça</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Fabry_hastal%C4%B1%C4%9F%C4%B1" title="Fabry hastalığı – Turkish" lang="tr" hreflang="tr" data-title="Fabry hastalığı" data-language-autonym="Türkçe" data-language-local-name="Turkish" class="interlanguage-link-target"><span>Türkçe</span></a></li><li class="interlanguage-link interwiki-ur mw-list-item"><a href="https://ur.wikipedia.org/wiki/%D9%81%DB%8C%D8%A8%D8%B1%DB%8C_%D8%A8%DB%8C%D9%85%D8%A7%D8%B1%DB%8C" title="فیبری بیماری – Urdu" lang="ur" hreflang="ur" data-title="فیبری بیماری" data-language-autonym="اردو" data-language-local-name="Urdu" class="interlanguage-link-target"><span>اردو</span></a></li><li class="interlanguage-link interwiki-zh mw-list-item"><a href="https://zh.wikipedia.org/wiki/%E6%B3%95%E5%B8%83%E7%91%9E%E6%B0%8F%E7%97%85" title="法布瑞氏病 – Chinese" lang="zh" hreflang="zh" data-title="法布瑞氏病" 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 class="wb-langlinks-edit wb-langlinks-link"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q615645#sitelinks-wikipedia" title="Edit interlanguage links" class="wbc-editpage">Edit links</a></span></div> </div> </div> </div> </header> <div class="vector-page-toolbar"> <div class="vector-page-toolbar-container"> <div id="left-navigation"> <nav aria-label="Namespaces"> <div id="p-associated-pages" class="vector-menu vector-menu-tabs mw-portlet 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.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">Fabry disease</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Fabry's disease, Anderson–Fabry disease, angiokeratoma corporis diffusum, alpha-galactosidase A deficiency</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:PBB_Protein_GLA_image.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/3/31/PBB_Protein_GLA_image.jpg/220px-PBB_Protein_GLA_image.jpg" decoding="async" width="220" height="220" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/3/31/PBB_Protein_GLA_image.jpg/330px-PBB_Protein_GLA_image.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/3/31/PBB_Protein_GLA_image.jpg/440px-PBB_Protein_GLA_image.jpg 2x" data-file-width="500" data-file-height="500" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data"><a href="/wiki/Alpha_galactosidase" class="mw-redirect" title="Alpha galactosidase">Alpha galactosidase</a> - the deficient protein in Fabry disease</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="/ˈ/: primary stress follows">ˈ</span><span title="'f' in 'find'">f</span><span title="/ɑː/: 'a' in 'father'">ɑː</span><span title="'b' in 'buy'">b</span><span title="'r' in 'rye'">r</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">Medical Genetics</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Complication_(medicine)" title="Complication (medicine)">Complications</a></th><td class="infobox-data"><a href="/wiki/Heart_failure" title="Heart failure">Heart failure</a>, <a href="/wiki/Cardiac_arrhythmia" class="mw-redirect" title="Cardiac arrhythmia">abnormal heart rhythms</a></td></tr><tr><th scope="row" class="infobox-label">Usual onset</th><td class="infobox-data">Childhood</td></tr><tr><th scope="row" class="infobox-label">Causes</th><td class="infobox-data">Genetic</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_diagnosis" title="Medical diagnosis">Diagnostic method</a></th><td class="infobox-data">Enzyme activity assay, genetic testing</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Differential_diagnosis" title="Differential diagnosis">Differential diagnosis</a></th><td class="infobox-data"><a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">Hypertrophic cardiomyopathy</a></td></tr><tr><th scope="row" class="infobox-label">Treatment</th><td class="infobox-data">Enzyme replacement</td></tr></tbody></table> <p><b>Fabry disease</b>, also known as <b>Anderson–Fabry disease</b>, is a rare <a href="/wiki/Genetic_disease" class="mw-redirect" title="Genetic disease">genetic disease</a> that can affect many parts of the body, including the <a href="/wiki/Kidney" title="Kidney">kidneys</a>, <a href="/wiki/Heart" title="Heart">heart</a>, <a href="/wiki/Brain" title="Brain">brain</a>, and <a href="/wiki/Integumentary_system" title="Integumentary system">skin</a>.<sup id="cite_ref-Andrews_1-0" class="reference"><a href="#cite_note-Andrews-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup> Fabry disease is one of a group of conditions known as <a href="/wiki/Lysosomal_storage_disease" title="Lysosomal storage disease">lysosomal storage diseases</a>. The <a href="/wiki/Genetic_mutation" class="mw-redirect" title="Genetic mutation">genetic mutation</a> that causes Fabry disease interferes with the function of an <a href="/wiki/Enzyme" title="Enzyme">enzyme</a> that processes <a href="/wiki/Biomolecule" title="Biomolecule">biomolecules</a> known as <a href="/wiki/Sphingolipids" class="mw-redirect" title="Sphingolipids">sphingolipids</a>, leading to these substances building up in the walls of <a href="/wiki/Blood_vessel" title="Blood vessel">blood vessels</a> and other organs. It is inherited in an <a href="/wiki/X-linked" class="mw-redirect" title="X-linked">X-linked</a> manner. </p><p>Fabry disease is sometimes diagnosed using a <a href="/wiki/Blood_test" title="Blood test">blood test</a> that measures the activity of the affected enzyme called <a href="/wiki/Alpha-galactosidase" class="mw-redirect" title="Alpha-galactosidase">alpha-galactosidase</a>, but <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a> is also sometimes used, particularly in females. </p><p>The treatment for Fabry disease varies depending on the organs affected by the condition, and the underlying cause can be addressed by replacing the enzyme that is lacking. </p><p>The first descriptions of the condition were made simultaneously by <a href="/wiki/Dermatology" title="Dermatology">dermatologist</a> <a href="/wiki/Johannes_Fabry" title="Johannes Fabry">Johannes Fabry</a><sup id="cite_ref-:2_2-0" class="reference"><a href="#cite_note-:2-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> and the surgeon <a href="/wiki/William_Anderson_(collector)" title="William Anderson (collector)">William Anderson</a><sup id="cite_ref-:3_3-0" class="reference"><a href="#cite_note-:3-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> in 1898.<sup id="cite_ref-:4_4-0" class="reference"><a href="#cite_note-:4-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </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=Fabry_disease&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/File:Morbus_Fabry_Cornea_verticillata_01.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/6/67/Morbus_Fabry_Cornea_verticillata_01.jpg/220px-Morbus_Fabry_Cornea_verticillata_01.jpg" decoding="async" width="220" height="132" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/67/Morbus_Fabry_Cornea_verticillata_01.jpg/330px-Morbus_Fabry_Cornea_verticillata_01.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/67/Morbus_Fabry_Cornea_verticillata_01.jpg/440px-Morbus_Fabry_Cornea_verticillata_01.jpg 2x" data-file-width="1200" data-file-height="719" /></a><figcaption>A bilateral, whorl-like corneal pattern of cream-colored lines in a person with Fabry disease</figcaption></figure> <figure class="mw-default-size mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/File:Angiokreatoma.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/8/85/Angiokreatoma.jpg/220px-Angiokreatoma.jpg" decoding="async" width="220" height="255" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/8/85/Angiokreatoma.jpg/330px-Angiokreatoma.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/8/85/Angiokreatoma.jpg/440px-Angiokreatoma.jpg 2x" data-file-width="654" data-file-height="758" /></a><figcaption>Angiokeratoma, a common skin manifestation in Fabry disease</figcaption></figure> <p>Symptoms are typically first experienced in early childhood and can be very difficult to diagnose; the rarity of Fabry disease to many clinicians sometimes leads to misdiagnoses. Manifestations of the disease usually increase in number and severity as an individual ages.<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Pain">Pain</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=2" title="Edit section: Pain"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Full-body or localized pain to the extremities (known as <a href="/wiki/Acroparesthesia" class="mw-redirect" title="Acroparesthesia">acroparesthesia</a>) or gastrointestinal (GI) tract is common in patients with Fabry disease. This pain can increase over time. This <a href="/wiki/Acroparesthesia" class="mw-redirect" title="Acroparesthesia">acroparesthesia</a> is believed to be related to the damage of peripheral nerve fibers that transmit pain. Gastrointestinal tract pain is likely caused by the accumulation of lipids in the small vasculature of the GI tract, which obstructs blood flow and causes pain.<sup id="cite_ref-6" class="reference"><a href="#cite_note-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Kidney">Kidney</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=3" title="Edit section: Kidney"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Kidney complications are common and serious effects of the disease; <a href="/wiki/Chronic_kidney_disease" title="Chronic kidney disease">chronic kidney disease</a> and <a href="/wiki/Kidney_failure" title="Kidney failure">kidney failure</a> may worsen throughout life. The presence of <a href="/wiki/Proteinuria" title="Proteinuria">protein in the urine</a> (which causes foamy urine) is often the first sign of kidney involvement. End-stage kidney failure in those with Fabry disease typically occurs in the third decade of life and is a common cause of death due to the disease.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (July 2014)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="Heart">Heart</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=4" title="Edit section: Heart"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Fabry disease can affect the <a href="/wiki/Heart" title="Heart">heart</a> in several ways. The accumulation of sphingolipids within <a href="/wiki/Cardiac_muscle_cell" class="mw-redirect" title="Cardiac muscle cell">heart muscle cells</a> causes an abnormal thickening of the <a href="/wiki/Cardiac_muscle" title="Cardiac muscle">heart muscle</a> or <a href="/wiki/Hypertrophy" title="Hypertrophy">hypertrophy</a>. This hypertrophy can cause the heart muscle to become abnormally stiff and unable to relax, leading to a <a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">hypertrophic cardiomyopathy</a> causing <a href="/wiki/Shortness_of_breath" title="Shortness of breath">shortness of breath</a>.<sup id="cite_ref-:0_7-0" class="reference"><a href="#cite_note-:0-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_8-0" class="reference"><a href="#cite_note-:1-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p><p>Fabry disease can also affect how the heart <a href="/wiki/Electrical_conduction_system_of_the_heart" class="mw-redirect" title="Electrical conduction system of the heart">conducts electrical impulses</a>, leading to both <a href="/wiki/Heart_arrhythmia" class="mw-redirect" title="Heart arrhythmia">abnormally slow heart rhythms</a> such as <a href="/wiki/Third-degree_atrioventricular_block" title="Third-degree atrioventricular block">complete heart block</a>, and abnormally rapid heart rhythms such as <a href="/wiki/Ventricular_tachycardia" title="Ventricular tachycardia">ventricular tachycardia</a>. These abnormal heart rhythms can cause blackouts, <a href="/wiki/Palpitations" title="Palpitations">palpitations</a>, or even <a href="/wiki/Cardiac_arrest" title="Cardiac arrest">sudden cardiac death</a>.<sup id="cite_ref-:0_7-1" class="reference"><a href="#cite_note-:0-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_8-1" class="reference"><a href="#cite_note-:1-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p><p>Sphingolipids can also build up within the <a href="/wiki/Heart_valve" title="Heart valve">heart valves</a>, thickening the valves and affecting the way they open and close. If severe, this can cause the valves to leak (<a href="/wiki/Mitral_insufficiency" class="mw-redirect" title="Mitral insufficiency">regurgitation</a>) or restrict the forward flow of blood (<a href="/wiki/Aortic_stenosis" title="Aortic stenosis">stenosis</a>). The <a href="/wiki/Aortic_valve" title="Aortic valve">aortic</a> and <a href="/wiki/Mitral_valve" title="Mitral valve">mitral valves</a> are more commonly affected than the <a href="/wiki/Tricuspid_valve" title="Tricuspid valve">valves on the right side of the heart</a>.<sup id="cite_ref-:0_7-2" class="reference"><a href="#cite_note-:0-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-:1_8-2" class="reference"><a href="#cite_note-:1-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Skin">Skin</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=5" title="Edit section: Skin"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Angiokeratoma" title="Angiokeratoma">Angiokeratomas</a> (tiny, painless <a href="/wiki/Papules" class="mw-redirect" title="Papules">papules</a> that can appear on any region of the body, but are predominant on the thighs, around the navel, buttocks, lower abdomen, and groin) are common.<sup id="cite_ref-9" class="reference"><a href="#cite_note-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Anhidrosis" class="mw-redirect" title="Anhidrosis">Anhidrosis</a> (lack of sweating) is a common symptom, and less commonly <a href="/wiki/Hyperhidrosis" title="Hyperhidrosis">hyperhidrosis</a> (excessive sweating).<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (July 2014)">citation needed</span></a></i>]</sup> </p><p>Additionally, patients can exhibit <a href="/wiki/Raynaud%27s_disease" class="mw-redirect" title="Raynaud's disease">Raynaud's disease</a>-like symptoms with <a href="/wiki/Neuropathy" class="mw-redirect" title="Neuropathy">neuropathy</a> (in particular, burning extremity pain).<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (July 2014)">citation needed</span></a></i>]</sup> </p><p>Ocular involvement may be present showing <a href="/wiki/Cornea_verticillata" title="Cornea verticillata">cornea verticillata</a> (also known as vortex keratopathy), i.e. clouding of the corneas. Keratopathy may be the presenting feature in asymptomatic patients and must be differentiated from other causes of vortex keratopathy (e.g. drug deposition in the cornea).<sup id="cite_ref-pmid7116220_10-0" class="reference"><a href="#cite_note-pmid7116220-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> This clouding does not affect vision.<sup id="cite_ref-pmid7116220_10-1" class="reference"><a href="#cite_note-pmid7116220-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> </p><p>Other ocular findings can include conjunctival and retinal vascular abnormalities and anterior/posterior spoke-like cataracts. Visual reduction from these manifestations is uncommon.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (February 2021)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="Other_manifestations">Other manifestations</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=6" title="Edit section: Other manifestations"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Fatigue_(medical)" class="mw-redirect" title="Fatigue (medical)">Fatigue</a>, <a href="/wiki/Neuropathy" class="mw-redirect" title="Neuropathy">neuropathy</a> (in particular, burning extremity pain, red hands and feet on and off), cerebrovascular effects leading to an increased risk of stroke - early strokes, mostly vertebrobasilar system <a href="/wiki/Tinnitus" title="Tinnitus">tinnitus</a> (ringing in the ears), <a href="/wiki/Vertigo_(medical)" class="mw-redirect" title="Vertigo (medical)">vertigo</a>, nausea, inability to gain weight, chemical imbalances, and diarrhea are other common symptoms.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (July 2014)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Causes">Causes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=7" title="Edit section: Causes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Fabry disease is caused by a DNA sequence (gene) that is not functioning as it should. A person who inherits this gene does not have enough of a functioning enzyme known as <a href="/wiki/Alpha-galactosidase" class="mw-redirect" title="Alpha-galactosidase">alpha-galactosidase A</a>. The lack of alpha-galactosidase leads to Fabry disease. A deficiency of alpha-galactosidase A (a-GAL A, encoded by <a rel="nofollow" class="external text" href="https://web.archive.org/web/20080515200440/http://www.genenames.org/data/hgnc_data.php?match=GLA"><i>GLA</i></a>) due to mutation causes a <a href="/wiki/Glycolipid" title="Glycolipid">glycolipid</a> known as <a href="/wiki/Globotriaosylceramide" title="Globotriaosylceramide">globotriaosylceramide</a> (abbreviated as Gb3, GL-3, or ceramide trihexoside) to accumulate within the <a href="/wiki/Blood_vessel" title="Blood vessel">blood vessels</a>, other tissues, and organs.<sup id="cite_ref-pmid16403380_11-0" class="reference"><a href="#cite_note-pmid16403380-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> This accumulation leads to an impairment of their proper functions.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (February 2021)">citation needed</span></a></i>]</sup> </p><p>At least 443 disease-causing mutations in the GLA gene have been discovered.<sup id="cite_ref-Šimčíková_2019_-_supplementary_table_S7_12-0" class="reference"><a href="#cite_note-Šimčíková_2019_-_supplementary_table_S7-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> The DNA mutations that cause the disease are X-linked recessive with incomplete penetrance in heterozygous females. The condition affects <a href="/wiki/Zygosity" title="Zygosity">hemizygous</a> males (i.e. all non-intersex males), as well as <a href="/wiki/Zygosity" title="Zygosity">homozygous</a>, and in many cases <a href="/wiki/Zygosity" title="Zygosity">heterozygous</a> females. While males typically experience severe symptoms, women can range from being <a href="/wiki/Asymptomatic" title="Asymptomatic">asymptomatic</a> to having severe symptoms. Research suggests many women experience severe symptoms ranging from early <a href="/wiki/Cataract" title="Cataract">cataracts</a> or strokes to <a href="/wiki/Hypertrophy" title="Hypertrophy">hypertrophic</a> left ventricular heart problems and kidney failure. This variability is thought to be due to <a href="/wiki/X-inactivation" title="X-inactivation">X-inactivation</a> patterns during embryonic development of the female.<sup id="cite_ref-13" class="reference"><a href="#cite_note-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Mechanism">Mechanism</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=8" title="Edit section: Mechanism"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Fabry disease is an inherited lysosomal storage disorder that is caused by a deficiency of alpha-galactosidase A. This enzyme deficiency is a result of an accumulation of <a href="/wiki/Glycosphingolipid" title="Glycosphingolipid">glycosphingolipids</a> found in the <a href="/wiki/Lysosome" title="Lysosome">lysosomes</a> and most cell types and tissues, which leads it to be considered a multisystem disease. Indications include painful crisis, angiokeratomas, <a href="/wiki/Corneal_dystrophy" title="Corneal dystrophy">corneal dystrophy</a>, and hypohidrosis.<sup id="cite_ref-:6_14-0" class="reference"><a href="#cite_note-:6-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> In severe cases there is renal, cerebrovascular, and cardiac involvement and it is predominately responsible for premature mortality in Fabry patients.<sup id="cite_ref-:6_14-1" class="reference"><a href="#cite_note-:6-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> Fabry disease is <a href="/wiki/X-linked" class="mw-redirect" title="X-linked">X-linked</a> and manifests mostly in <a href="/wiki/Homozygous" class="mw-redirect" title="Homozygous">homozygous</a> males but also in <a href="/wiki/Heterozygous" class="mw-redirect" title="Heterozygous">heterozygous</a> females. Cardiac involvement is recurrent in Fabry patients. Patients have developed <a href="/wiki/Hypertrophic_cardiomyopathy" title="Hypertrophic cardiomyopathy">hypertrophic cardiomyopathy</a>, <a href="/wiki/Arrhythmia" title="Arrhythmia">arrhythmias</a>, conduction abnormalities, and valvular abnormalities.<sup id="cite_ref-:6_14-2" class="reference"><a href="#cite_note-:6-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> Deficient activity of lysosomal alpha-galactosidase results in progressive accumulation of <a href="/wiki/Globotriaosylceramide" title="Globotriaosylceramide">globotriaosylceramide</a> (GL-3) within lysosomes, that is believed to trigger a cascade of cellular events.<sup id="cite_ref-:7_15-0" class="reference"><a href="#cite_note-:7-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> The demonstration of marked alpha-galactosidase deficiency is the conclusive method for the diagnosis in homozygous males. It may be detected in heterozygous females, but it is often inconclusive due to random X-chromosomal inactivation, so molecular testing (<a href="/wiki/Genotyping" title="Genotyping">genotyping</a>) of females is mandatory.<sup id="cite_ref-:7_15-1" class="reference"><a href="#cite_note-:7-15"><span class="cite-bracket">[</span>15<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=Fabry_disease&action=edit&section=9" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Fabry disease is suspected based on the individual's clinical presentation and can be diagnosed by an enzyme assay (usually done on <a href="/wiki/Leukocytes" class="mw-redirect" title="Leukocytes">leukocytes</a>) to measure the level of alpha-galactosidase activity. An enzyme assay is not reliable for the diagnosis of disease in females due to the random nature of X-inactivation. Molecular genetic analysis of the <i>GLA</i> gene is the most accurate method of diagnosis in females, particularly if the mutations have already been identified in male family members. Many disease-causing mutations have been noted. Kidney biopsy may also be suggestive of Fabry disease if excessive lipid buildup is noted. Pediatricians, as well as internists, commonly misdiagnose Fabry disease.<sup id="cite_ref-Marchesoni_16-0" class="reference"><a href="#cite_note-Marchesoni-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> All immediate and extended family members in the same family have the same family mutation, so if one member of a family has a DNA sequence analysis performed, other members of the family can be diagnosed by performing a targeted sequence analysis instead of testing the entire gene.<sup id="cite_ref-:8_17-0" class="reference"><a href="#cite_note-:8-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Targeted sequencing is quicker and less expensive to perform. One study reported that for every first diagnosis in a family, on average five more family members (immediate and extended) are also diagnosed.<sup id="cite_ref-:8_17-1" class="reference"><a href="#cite_note-:8-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> </p><p>MRI is accurate in accessing left ventricular mass and thickness and hypertrophy. <a href="/wiki/Cardiac_magnetic_resonance_imaging#Late_gadolinium_enhancement" title="Cardiac magnetic resonance imaging">Late gadolinium enhancement</a> shows an increased signal of the mid wall at the inferolateral wall of the base of the left ventricle, usually in the non-hypertrophic ventricle. <a href="/wiki/MRI_sequence#T1_and_T2" class="mw-redirect" title="MRI sequence">T1-weighted imaging</a> can show low T1 signal due to sphingolipid storage in the heart even without ventricular hypertrophy in 40% of those affected by the disease. Thus, MRI is a useful way of diagnosing the disease early.<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> T2 signal is increased in inflammation and oedema.<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> </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=10" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The treatments available for Fabry disease can be divided into therapies that aim to correct the underlying problem of decreased activity of the alpha-galactosidase A enzyme and thereby reduce the risk of organ damage, and therapies to improve symptoms and life expectancy once organ damage has already occurred.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (February 2021)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading3"><h3 id="Therapies_targeting_enzyme_activity">Therapies targeting enzyme activity</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=11" title="Edit section: Therapies targeting enzyme activity"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Enzyme_replacement_therapy" title="Enzyme replacement therapy">Enzyme replacement therapy</a> is designed to provide the enzyme the patient is missing as a result of a genetic malfunction. This treatment is not a cure, but can partially prevent disease progression, and potentially reverse some symptoms.<sup id="cite_ref-:5_20-0" class="reference"><a href="#cite_note-:5-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> As of March 2022<sup class="plainlinks noexcerpt noprint asof-tag update" style="display:none;"><a class="external text" href="https://en.wikipedia.org/w/index.php?title=Fabry_disease&action=edit">[update]</a></sup>, three medical drugs based on enzyme replacement therapy are available for Fabry disease: <ul><li><a href="/wiki/Agalsidase_alfa" class="mw-redirect" title="Agalsidase alfa">Agalsidase alfa</a>, sold under the brand name Replagal by the company <a href="/wiki/Takeda_Pharmaceutical_Company" title="Takeda Pharmaceutical Company">Takeda</a> (since its acquisition of the company <a href="/wiki/Shire_plc" class="mw-redirect" title="Shire plc">Shire</a>), is a recombinant form of alpha-galactosidase A<sup id="cite_ref-pmid22946754_21-0" class="reference"><a href="#cite_note-pmid22946754-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> It received approval in the EU in 2001.<sup id="cite_ref-EPAR_Replagal_22-0" class="reference"><a href="#cite_note-EPAR_Replagal-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> FDA approval was applied for the United States.<sup id="cite_ref-npr_23-0" class="reference"><a href="#cite_note-npr-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> However, Shire withdrew their application for approval in the United States in 2012, citing that the agency will require additional clinical trials before approval.<sup id="cite_ref-www.pharmatimes.com_24-0" class="reference"><a href="#cite_note-www.pharmatimes.com-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> As of March 2022<sup class="plainlinks noexcerpt noprint asof-tag update" style="display:none;"><a class="external text" href="https://en.wikipedia.org/w/index.php?title=Fabry_disease&action=edit">[update]</a></sup>, Replagal has not received FDA approval.<sup id="cite_ref-25" class="reference"><a href="#cite_note-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Agalsidase_beta" class="mw-redirect" title="Agalsidase beta">Agalsidase beta</a>, sold under the brand name Fabrazyme by the company <a href="/wiki/Sanofi" title="Sanofi">Sanofi</a>, is another recombinant form of alpha-galactosidase. Like replagal, it received approval in the EU in 2001.<sup id="cite_ref-EPAR_Fabrazyme_26-0" class="reference"><a href="#cite_note-EPAR_Fabrazyme-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> In 2003, it was the first treatment for Fabry disease to be approved by the FDA.<sup id="cite_ref-27" class="reference"><a href="#cite_note-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Pegunigalsidase_alfa" title="Pegunigalsidase alfa">Pegunigalsidase alfa</a> (Elfabrio) was approved for medical use in the European Union in May 2023.<sup id="cite_ref-Elfabrio_EPAR_28-0" class="reference"><a href="#cite_note-Elfabrio_EPAR-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup></li></ul></li></ul> <dl><dd>Clinically, agalsidase alfa and agalsidase beta are generally similar in effectiveness and safety,<sup id="cite_ref-Arends2018_29-0" class="reference"><a href="#cite_note-Arends2018-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> however they have never been compared directly in a <a href="/wiki/Randomized_trial" class="mw-redirect" title="Randomized trial">randomized trial</a>.<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> Both are given by <a href="/wiki/Intravenous_infusion" class="mw-redirect" title="Intravenous infusion">intravenous infusion</a> every two weeks.<sup id="cite_ref-EPAR_Replagal_22-1" class="reference"><a href="#cite_note-EPAR_Replagal-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-EPAR_Fabrazyme_26-1" class="reference"><a href="#cite_note-EPAR_Fabrazyme-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> They are available in Europe and in many other parts of the world, but treatment costs remain very high.<sup id="cite_ref-31" class="reference"><a href="#cite_note-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup></dd></dl> <ul><li><a href="/wiki/Pharmacological_chaperone" title="Pharmacological chaperone">Pharmacological chaperone</a> therapy is another strategy to maintain enzyme activity. It does so by assisting correct <a href="/wiki/Protein_folding" title="Protein folding">folding</a> of alpha-galactosidase despite the mutations that cause Fabry disease. As of March 2022<sup class="plainlinks noexcerpt noprint asof-tag update" style="display:none;"><a class="external text" href="https://en.wikipedia.org/w/index.php?title=Fabry_disease&action=edit">[update]</a></sup>, one medical drug based on pharmacological chaperone therapy is available for Fabry disease: <ul><li><a href="/wiki/Migalastat" title="Migalastat">Migalastat</a>, sold under the brand name Galafold by the company <a href="/wiki/Amicus_Therapeutics" title="Amicus Therapeutics">Amicus Therapeutics</a>, is a pharmacological chaperone that can stabilize many mutant forms of alpha-galactosidase. It is taken by mouth. In a randomized trial comparing Migalastat with enzyme replacement therapy, the efficacy and safety of both treatments were similar.<sup id="cite_ref-Hughes2017_32-0" class="reference"><a href="#cite_note-Hughes2017-32"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-NCT01218659_33-0" class="reference"><a href="#cite_note-NCT01218659-33"><span class="cite-bracket">[</span>33<span class="cite-bracket">]</span></a></sup> The US <a href="/wiki/Food_and_Drug_Administration" title="Food and Drug Administration">Food and Drug Administration</a> (FDA) granted Galafold <a href="/wiki/Orphan_drug" title="Orphan drug">orphan drug</a> status in 2004,<sup id="cite_ref-Orphans_34-0" class="reference"><a href="#cite_note-Orphans-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> and the European Commission followed in 2006.<sup id="cite_ref-35" class="reference"><a href="#cite_note-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> The European Medicines Agency's <a href="/wiki/Committee_for_Medicinal_Products_for_Human_Use" title="Committee for Medicinal Products for Human Use">Committee for Medicinal Products for Human Use</a> (CHMP) granted the drug a marketing approval under the name Galafold in May 2016.<sup id="cite_ref-Newswire_36-0" class="reference"><a href="#cite_note-Newswire-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-EPAR_37-0" class="reference"><a href="#cite_note-EPAR-37"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Galafold_EPAR_38-0" class="reference"><a href="#cite_note-Galafold_EPAR-38"><span class="cite-bracket">[</span>38<span class="cite-bracket">]</span></a></sup> FDA approval followed in 2018.<sup id="cite_ref-39" class="reference"><a href="#cite_note-39"><span class="cite-bracket">[</span>39<span class="cite-bracket">]</span></a></sup></li></ul></li> <li>Experimental therapies that are not approved for treatment as of March 2022<sup class="plainlinks noexcerpt noprint asof-tag update" style="display:none;"><a class="external text" href="https://en.wikipedia.org/w/index.php?title=Fabry_disease&action=edit">[update]</a></sup> include the following: <ul><li>A gene therapy treatment that is in early-phase clinical trials,<sup id="cite_ref-40" class="reference"><a href="#cite_note-40"><span class="cite-bracket">[</span>40<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-41" class="reference"><a href="#cite_note-41"><span class="cite-bracket">[</span>41<span class="cite-bracket">]</span></a></sup> with the technology licensed to AvroBio.<sup id="cite_ref-42" class="reference"><a href="#cite_note-42"><span class="cite-bracket">[</span>42<span class="cite-bracket">]</span></a></sup></li> <li>The substrate reduction therapy <a href="/w/index.php?title=Venglustat&action=edit&redlink=1" class="new" title="Venglustat (page does not exist)">Venglustat</a> (Ibiglustat) under development by Sanofi-Genzyme<sup id="cite_ref-43" class="reference"><a href="#cite_note-43"><span class="cite-bracket">[</span>43<span class="cite-bracket">]</span></a></sup></li> <li>Bio-better ERT (CDX-6311) under pre-clinical development by the company <a href="/wiki/Codexis" title="Codexis">Codexis</a><sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2024)">citation needed</span></a></i>]</sup></li> <li>A <a href="/wiki/Gene_therapy" title="Gene therapy">gene therapy</a> (ST-920) under development by the company <a href="/wiki/Sangamo_Therapeutics" title="Sangamo Therapeutics">Sangamo</a>.<sup id="cite_ref-44" class="reference"><a href="#cite_note-44"><span class="cite-bracket">[</span>44<span class="cite-bracket">]</span></a></sup></li> <li>A nucleoside-modified RNA treatment that has shown efficacy in a mouse model of Fabry disease and in cardiomyocytes derived from induced pluripotent stem cells from individuals with Fabry disease.<sup id="cite_ref-45" class="reference"><a href="#cite_note-45"><span class="cite-bracket">[</span>45<span class="cite-bracket">]</span></a></sup></li></ul></li></ul> <div class="mw-heading mw-heading3"><h3 id="Organ-specific_treatment">Organ-specific treatment</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=12" title="Edit section: Organ-specific treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Pain associated with Fabry disease may be partially alleviated by enzyme replacement therapy in some patients, but pain management regimens may also include <a href="/wiki/Analgesic" title="Analgesic">analgesics</a>, <a href="/wiki/Anticonvulsant" title="Anticonvulsant">anticonvulsants</a>, and <a href="/wiki/Nonsteroidal_anti-inflammatory_drug" title="Nonsteroidal anti-inflammatory drug">nonsteroidal anti-inflammatory drugs</a>, though the latter are usually best avoided in kidney disease. The kidney failure seen in some of those with Fabry disease sometimes requires <a href="/wiki/Haemodialysis" class="mw-redirect" title="Haemodialysis">haemodialysis</a>. The cardiac complications of Fabry disease include <a href="/wiki/Arrhythmia" title="Arrhythmia">abnormal heart rhythms</a>, which may require a <a href="/wiki/Artificial_pacemaker" class="mw-redirect" title="Artificial pacemaker">pacemaker</a> or <a href="/wiki/Implantable_cardioverter-defibrillator" title="Implantable cardioverter-defibrillator">implantable cardioverter-defibrillator</a>, while the restrictive cardiomyopathy often seen may require <a href="/wiki/Diuretics" class="mw-redirect" title="Diuretics">diuretics</a>.<sup id="cite_ref-:5_20-1" class="reference"><a href="#cite_note-:5-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Prognosis">Prognosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=13" title="Edit section: Prognosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Life_expectancy" title="Life expectancy">Life expectancy</a> with Fabry disease for males was 58.2 years, compared with 74.7 years in the general population, and for females 75.4 years compared with 80.0 years in the general population, according to registry data from 2001 to 2008. The most common cause of death was cardiovascular disease, and most of those had received kidney replacements.<sup id="cite_ref-46" class="reference"><a href="#cite_note-46"><span class="cite-bracket">[</span>46<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=Fabry_disease&action=edit&section=14" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Fabry disease is <a href="/wiki/Panethnicity" title="Panethnicity">panethnic</a>, but due to its rarity, determining an accurate disease frequency is difficult.<sup id="cite_ref-:7_15-2" class="reference"><a href="#cite_note-:7-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> Reported incidences, ranging from one in 476,000 to one in 117,000 in the general population, may largely underestimate the true prevalence.<sup id="cite_ref-:7_15-3" class="reference"><a href="#cite_note-:7-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> Newborn screening initiatives have found an unexpectedly high prevalence of the disease, as high as one in about 3,100 newborns in Italy, and have identified a surprisingly high frequency of newborn males around one in 1,500 in Taiwan.<sup id="cite_ref-:7_15-4" class="reference"><a href="#cite_note-:7-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Research">Research</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=15" title="Edit section: Research"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li>Enzyme replacement therapy: Replacement of the missing enzyme to clear the lipids (GL-3) from the cells<sup id="cite_ref-:8_17-2" class="reference"><a href="#cite_note-:8-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup></li> <li>Substrate synthesis inhibition, also called substrate reduction therapy: Inhibits the production of the lipid (GL-3) that accumulates in the cells<sup id="cite_ref-:8_17-3" class="reference"><a href="#cite_note-:8-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup></li> <li>Chaperone therapy: Uses small-molecule drugs that bind to the defective enzyme and stabilize it to increase enzyme activity and increase cellular function<sup id="cite_ref-:8_17-4" class="reference"><a href="#cite_note-:8-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup></li> <li>Gene editing: Technology that can potentially cut and fix a broken gene in a cell<sup id="cite_ref-:8_17-5" class="reference"><a href="#cite_note-:8-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup></li> <li>Gene therapy: Genetically modifies the affected cells to produce the missing enzyme.<sup id="cite_ref-:8_17-6" class="reference"><a href="#cite_note-:8-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup></li></ul> <div class="mw-heading mw-heading2"><h2 id="History">History</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=16" title="Edit section: History"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Fabry disease was first described by <a href="/wiki/Dermatology" title="Dermatology">dermatologist</a> <a href="/wiki/Johannes_Fabry" title="Johannes Fabry">Johannes Fabry</a><sup id="cite_ref-:2_2-1" class="reference"><a href="#cite_note-:2-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> and surgeon <a href="/wiki/William_Anderson_(collector)" title="William Anderson (collector)">William Anderson</a><sup id="cite_ref-:3_3-1" class="reference"><a href="#cite_note-:3-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> independently in 1898.<sup id="cite_ref-:4_4-1" class="reference"><a href="#cite_note-:4-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> It was recognised to be due to abnormal storage of lipids in 1952. In the 1960s, the inheritance pattern was established as being X-linked, as well as the molecular defect responsible for causing the accumulation of glycolipids.<sup id="cite_ref-:4_4-2" class="reference"><a href="#cite_note-:4-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Ken_Hashimoto" title="Ken Hashimoto">Ken Hashimoto</a> published his classic paper on his electron microscopic findings in Fabry disease in 1965.<sup id="cite_ref-CrisseyParish2013_47-0" class="reference"><a href="#cite_note-CrisseyParish2013-47"><span class="cite-bracket">[</span>47<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Mehta_48-0" class="reference"><a href="#cite_note-Mehta-48"><span class="cite-bracket">[</span>48<span class="cite-bracket">]</span></a></sup> </p><p>The first specific treatment for Fabry disease was approved in 2001.<sup id="cite_ref-:5_20-2" class="reference"><a href="#cite_note-:5-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-url_FierceBiotech_49-0" class="reference"><a href="#cite_note-url_FierceBiotech-49"><span class="cite-bracket">[</span>49<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Society_and_culture">Society and culture</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=17" title="Edit section: Society and culture"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><i><a href="/wiki/House_(TV_series)" title="House (TV series)">House</a></i> ("<a href="/wiki/Epic_Fail_(House)" class="mw-redirect" title="Epic Fail (House)">Epic Fail</a>", season six, episode three) centers on a patient with Fabry disease.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2024)">citation needed</span></a></i>]</sup></li> <li><i><a href="/wiki/Scrubs_(TV_series)" title="Scrubs (TV series)">Scrubs</a></i> ("My Catalyst", season three, episode 12) features a Fabry disease diagnosis.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2024)">citation needed</span></a></i>]</sup></li> <li><i><a href="/wiki/Crossing_Jordan" title="Crossing Jordan">Crossing Jordan</a></i> ("There's No Place Like Home", season two, episode one) features a patient who died from Fabry disease.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2024)">citation needed</span></a></i>]</sup></li> <li><i><a href="/wiki/The_Village:_Achiara%27s_Secret" title="The Village: Achiara's Secret">The Village</a></i> (Korean drama): "Achiara's Secret"<sup id="cite_ref-50" class="reference"><a href="#cite_note-50"><span class="cite-bracket">[</span>50<span class="cite-bracket">]</span></a></sup> features daughters of a serial rapist who find each other because they share Fabry disease.</li> <li><i><a href="/wiki/Doctor_John_(TV_series)" title="Doctor John (TV series)">Doctor John</a></i> (Korean drama): In episode two, a prisoner is diagnosed with Fabry disease.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2024)">citation needed</span></a></i>]</sup></li> <li>In <i><a href="/wiki/Lincoln_Rhyme:_Hunt_for_the_Bone_Collector" title="Lincoln Rhyme: Hunt for the Bone Collector">Lincoln Rhyme: Hunt for the Bone Collector</a></i>, a copycat of the titular Bone Collector has Fabry disease and takes <a href="/wiki/Galafold" class="mw-redirect" title="Galafold">Galafold</a>, which allows the detectives to learn his identity.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2024)">citation needed</span></a></i>]</sup></li> <li><i><a href="/wiki/Partners_for_Justice_(season_2)" class="mw-redirect" title="Partners for Justice (season 2)">Partners for Justice 2</a> </i> (Korean drama), features Doctor K, who had Fabry disease.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2024)">citation needed</span></a></i>]</sup></li> <li><i> Doc</i> (Italian drama): Series two features an episode with a tennis player who is diagnosed with Fabry disease<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (December 2024)">citation needed</span></a></i>]</sup></li></ul> <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=Fabry_disease&action=edit&section=18" 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"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-Andrews-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-Andrews_1-0">^</a></b></span> <span class="reference-text"><a href="#CITEREFJamesBergerElston2006">James, Berger & Elston 2006</a>, p. 538</span> </li> <li id="cite_note-:2-2"><span class="mw-cite-backlink">^ <a href="#cite_ref-:2_2-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:2_2-1"><sup><i><b>b</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="CITEREFFabry1898" class="citation journal cs1 cs1-prop-foreign-lang-source">Fabry J (December 1898). <a rel="nofollow" class="external text" href="https://zenodo.org/record/2215206">"Ein Beitrag zur Kenntniss der Purpura haemorrhagica nodularis (Purpura papulosa haemorrhagica Hebrae)"</a> [A contribution to the knowledge of the purpura haemorrhagica nodularis (purpura papulosa haemorrhagica Hebrae)]. <i>Archiv für Dermatologie und Syphilis</i> (in German). <b>43</b> (1): <span class="nowrap">187–</span>200. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1007%2Fbf01986897">10.1007/bf01986897</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:33956139">33956139</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Archiv+f%C3%BCr+Dermatologie+und+Syphilis&rft.atitle=Ein+Beitrag+zur+Kenntniss+der+Purpura+haemorrhagica+nodularis+%28Purpura+papulosa+haemorrhagica+Hebrae%29&rft.volume=43&rft.issue=1&rft.pages=%3Cspan+class%3D%22nowrap%22%3E187-%3C%2Fspan%3E200&rft.date=1898-12&rft_id=info%3Adoi%2F10.1007%2Fbf01986897&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A33956139%23id-name%3DS2CID&rft.aulast=Fabry&rft.aufirst=J&rft_id=https%3A%2F%2Fzenodo.org%2Frecord%2F2215206&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFabry+disease" class="Z3988"></span></span> </li> <li id="cite_note-:3-3"><span class="mw-cite-backlink">^ <a href="#cite_ref-:3_3-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:3_3-1"><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 id="CITEREFAnderson1898" class="citation journal cs1">Anderson W (April 1898). <a rel="nofollow" class="external text" href="https://zenodo.org/record/1447597">"A Case of 'Angeio-Keratoma'<span class="cs1-kern-right"></span>"</a>. <i>British Journal of Dermatology</i>. <b>10</b> (4): <span class="nowrap">113–</span>117. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1111%2Fj.1365-2133.1898.tb16317.x">10.1111/j.1365-2133.1898.tb16317.x</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:70966125">70966125</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=British+Journal+of+Dermatology&rft.atitle=A+Case+of+%27Angeio-Keratoma%27&rft.volume=10&rft.issue=4&rft.pages=%3Cspan+class%3D%22nowrap%22%3E113-%3C%2Fspan%3E117&rft.date=1898-04&rft_id=info%3Adoi%2F10.1111%2Fj.1365-2133.1898.tb16317.x&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A70966125%23id-name%3DS2CID&rft.aulast=Anderson&rft.aufirst=W&rft_id=https%3A%2F%2Fzenodo.org%2Frecord%2F1447597&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFabry+disease" class="Z3988"></span></span> </li> <li id="cite_note-:4-4"><span class="mw-cite-backlink">^ <a href="#cite_ref-:4_4-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-:4_4-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-:4_4-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSchiffmann2015" class="citation book cs1">Schiffmann R (2015). "Fabry disease". <i>Neurocutaneous Syndromes</i>. Handbook of Clinical Neurology. 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(September 2023). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502840">"GLA-modified RNA treatment lowers GB3 levels in iPSC-derived cardiomyocytes from Fabry-affected individuals"</a>. <i>American Journal of Human Genetics</i>. <b>110</b> (9): <span class="nowrap">1600–</span>1605. <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.ajhg.2023.07.013">10.1016/j.ajhg.2023.07.013</a>. <a href="/wiki/Hdl_(identifier)" class="mw-redirect" title="Hdl (identifier)">hdl</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://hdl.handle.net/2440%2F139761">2440/139761</a></span>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10502840">10502840</a></span>. <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/37607539">37607539</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Human+Genetics&rft.atitle=GLA-modified+RNA+treatment+lowers+GB3+levels+in+iPSC-derived+cardiomyocytes+from+Fabry-affected+individuals&rft.volume=110&rft.issue=9&rft.pages=%3Cspan+class%3D%22nowrap%22%3E1600-%3C%2Fspan%3E1605&rft.date=2023-09&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC10502840%23id-name%3DPMC&rft_id=info%3Apmid%2F37607539&rft_id=info%3Ahdl%2F2440%2F139761&rft_id=info%3Adoi%2F10.1016%2Fj.ajhg.2023.07.013&rft.aulast=Ter+Huurne&rft.aufirst=M&rft.au=Parker%2C+BL&rft.au=Liu%2C+NQ&rft.au=Qian%2C+EL&rft.au=Vivien%2C+C&rft.au=Karavendzas%2C+K&rft.au=Mills%2C+RJ&rft.au=Saville%2C+JT&rft.au=Abu-Bonsrah%2C+D&rft.au=Wise%2C+AF&rft.au=Hudson%2C+JE&rft.au=Talbot%2C+AS&rft.au=Finn%2C+PF&rft.au=Martini%2C+PG&rft.au=Fuller%2C+M&rft.au=Ricardo%2C+SD&rft.au=Watt%2C+KI&rft.au=Nicholls%2C+KM&rft.au=Porrello%2C+ER&rft.au=Elliott%2C+DA&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC10502840&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFabry+disease" class="Z3988"></span></span> </li> <li id="cite_note-46"><span class="mw-cite-backlink"><b><a href="#cite_ref-46">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFWaldekPatelBanikazemiLemay2009" class="citation journal cs1">Waldek S, Patel MR, Banikazemi M, Lemay R, Lee P (November 2009). <a rel="nofollow" class="external text" href="https://doi.org/10.1097%2FGIM.0b013e3181bb05bb">"Life expectancy and cause of death in males and females with Fabry disease: findings from the Fabry Registry"</a>. <i>Genetics in Medicine</i>. <b>11</b> (11): <span class="nowrap">790–</span>796. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1097%2FGIM.0b013e3181bb05bb">10.1097/GIM.0b013e3181bb05bb</a></span>. <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/19745746">19745746</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Genetics+in+Medicine&rft.atitle=Life+expectancy+and+cause+of+death+in+males+and+females+with+Fabry+disease%3A+findings+from+the+Fabry+Registry&rft.volume=11&rft.issue=11&rft.pages=%3Cspan+class%3D%22nowrap%22%3E790-%3C%2Fspan%3E796&rft.date=2009-11&rft_id=info%3Adoi%2F10.1097%2FGIM.0b013e3181bb05bb&rft_id=info%3Apmid%2F19745746&rft.aulast=Waldek&rft.aufirst=S&rft.au=Patel%2C+MR&rft.au=Banikazemi%2C+M&rft.au=Lemay%2C+R&rft.au=Lee%2C+P&rft_id=https%3A%2F%2Fdoi.org%2F10.1097%252FGIM.0b013e3181bb05bb&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFabry+disease" class="Z3988"></span></span> </li> <li id="cite_note-CrisseyParish2013-47"><span class="mw-cite-backlink"><b><a href="#cite_ref-CrisseyParish2013_47-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFJohn_Thorne_CrisseyLawrence_C._ParishKarl_Holubar2013" class="citation book cs1">John Thorne Crissey, Lawrence C. Parish, Karl Holubar (2013). <a rel="nofollow" class="external text" href="https://books.google.com/books?id=7ThZDwAAQBAJ&pg=PA179"><i>Historical Atlas of Dermatology and Dermatologists</i></a>. CRC Press. p. 179. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-1-84214-100-7" title="Special:BookSources/978-1-84214-100-7"><bdi>978-1-84214-100-7</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Historical+Atlas+of+Dermatology+and+Dermatologists&rft.pages=179&rft.pub=CRC+Press&rft.date=2013&rft.isbn=978-1-84214-100-7&rft.au=John+Thorne+Crissey&rft.au=Lawrence+C.+Parish&rft.au=Karl+Holubar&rft_id=https%3A%2F%2Fbooks.google.com%2Fbooks%3Fid%3D7ThZDwAAQBAJ%26pg%3DPA179&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFabry+disease" class="Z3988"></span></span> </li> <li id="cite_note-Mehta-48"><span class="mw-cite-backlink"><b><a href="#cite_ref-Mehta_48-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMehtaBeckLinhartSunder-Plassmann2006" class="citation book cs1">Mehta A, Beck M, Linhart A, Sunder-Plassmann G, Widmer U (2006). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK11615/">"History of lysosomal storage diseases: an overview"</a>. In Mehta A, Beck M, Sunder-Plassmann G (eds.). <i>Fabry Disease: Perspectives from 5 Years of FOS</i>. Oxford PharmaGenesis. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-1903539033" title="Special:BookSources/978-1903539033"><bdi>978-1903539033</bdi></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/21290707">21290707</a><span class="reference-accessdate">. Retrieved <span class="nowrap">10 August</span> 2018</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=History+of+lysosomal+storage+diseases%3A+an+overview&rft.btitle=Fabry+Disease%3A+Perspectives+from+5+Years+of+FOS&rft.pub=Oxford+PharmaGenesis&rft.date=2006&rft_id=info%3Apmid%2F21290707&rft.isbn=978-1903539033&rft.aulast=Mehta&rft.aufirst=A&rft.au=Beck%2C+M&rft.au=Linhart%2C+A&rft.au=Sunder-Plassmann%2C+G&rft.au=Widmer%2C+U&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK11615%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFabry+disease" class="Z3988"></span></span> </li> <li id="cite_note-url_FierceBiotech-49"><span class="mw-cite-backlink"><b><a href="#cite_ref-url_FierceBiotech_49-0">^</a></b></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="http://www.fiercebiotech.com/press-releases/shire-submits-biologics-license-application-bla-replagal-u-s-food-and-drug-administra">"Shire Submits Biologics License Application (BLA) for Replagal with the U.S. Food and Drug Administration (FDA)"</a>. FierceBiotech. 22 December 2009.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=Shire+Submits+Biologics+License+Application+%28BLA%29+for+Replagal+with+the+U.S.+Food+and+Drug+Administration+%28FDA%29&rft.pub=FierceBiotech&rft.date=2009-12-22&rft_id=http%3A%2F%2Fwww.fiercebiotech.com%2Fpress-releases%2Fshire-submits-biologics-license-application-bla-replagal-u-s-food-and-drug-administra&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFabry+disease" class="Z3988"></span></span> </li> <li id="cite_note-50"><span class="mw-cite-backlink"><b><a href="#cite_ref-50">^</a></b></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="http://tv.sbs.co.kr/village2015/">"The Village: Achiara's Secret"</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=The+Village%3A+Achiara%27s+Secret&rft_id=http%3A%2F%2Ftv.sbs.co.kr%2Fvillage2015%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFabry+disease" class="Z3988"></span></span> </li> </ol></div></div> <div class="mw-heading mw-heading2"><h2 id="Further_reading">Further reading</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=19" title="Edit section: Further reading"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239549316">.mw-parser-output .refbegin{margin-bottom:0.5em}.mw-parser-output .refbegin-hanging-indents>ul{margin-left:0}.mw-parser-output .refbegin-hanging-indents>ul>li{margin-left:0;padding-left:3.2em;text-indent:-3.2em}.mw-parser-output .refbegin-hanging-indents ul,.mw-parser-output .refbegin-hanging-indents ul li{list-style:none}@media(max-width:720px){.mw-parser-output .refbegin-hanging-indents>ul>li{padding-left:1.6em;text-indent:-1.6em}}.mw-parser-output .refbegin-columns{margin-top:0.3em}.mw-parser-output .refbegin-columns ul{margin-top:0}.mw-parser-output .refbegin-columns li{page-break-inside:avoid;break-inside:avoid-column}@media screen{.mw-parser-output .refbegin{font-size:90%}}</style><div class="refbegin" style=""> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFJamesBergerElston2006" class="citation book cs1">James WD, Berger TG, Elston D (2006). <i>Andrews' Diseases of the Skin: clinical Dermatology</i>. Saunders Elsevier. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-0-7216-2921-6" title="Special:BookSources/978-0-7216-2921-6"><bdi>978-0-7216-2921-6</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Andrews%27+Diseases+of+the+Skin%3A+clinical+Dermatology&rft.pub=Saunders+Elsevier&rft.date=2006&rft.isbn=978-0-7216-2921-6&rft.aulast=James&rft.aufirst=WD&rft.au=Berger%2C+TG&rft.au=Elston%2C+D&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFabry+disease" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSchiffmannKoppAustinSabnis2001" class="citation journal cs1">Schiffmann R, Kopp JB, Austin HA, Sabnis S, Moore DF, Weibel T, et al. (June 2001). <a rel="nofollow" class="external text" href="https://doi.org/10.1001%2Fjama.285.21.2743">"Enzyme replacement therapy in Fabry disease: a randomized controlled trial"</a>. <i>JAMA</i>. <b>285</b> (21): <span class="nowrap">2743–</span>2749. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1001%2Fjama.285.21.2743">10.1001/jama.285.21.2743</a></span>. <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/11386930">11386930</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=JAMA&rft.atitle=Enzyme+replacement+therapy+in+Fabry+disease%3A+a+randomized+controlled+trial&rft.volume=285&rft.issue=21&rft.pages=%3Cspan+class%3D%22nowrap%22%3E2743-%3C%2Fspan%3E2749&rft.date=2001-06&rft_id=info%3Adoi%2F10.1001%2Fjama.285.21.2743&rft_id=info%3Apmid%2F11386930&rft.aulast=Schiffmann&rft.aufirst=R&rft.au=Kopp%2C+JB&rft.au=Austin%2C+HA&rft.au=Sabnis%2C+S&rft.au=Moore%2C+DF&rft.au=Weibel%2C+T&rft.au=Balow%2C+JE&rft.au=Brady%2C+RO&rft_id=https%3A%2F%2Fdoi.org%2F10.1001%252Fjama.285.21.2743&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFabry+disease" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFWilcoxBanikazemiGuffonWaldek2004" class="citation journal cs1">Wilcox WR, Banikazemi M, Guffon N, Waldek S, Lee P, Linthorst GE, et al. (July 2004). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182009">"Long-term safety and efficacy of enzyme replacement therapy for Fabry disease"</a>. <i>American Journal of Human Genetics</i>. <b>75</b> (1): <span class="nowrap">65–</span>74. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1086%2F422366">10.1086/422366</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1182009">1182009</a></span>. <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/15154115">15154115</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Human+Genetics&rft.atitle=Long-term+safety+and+efficacy+of+enzyme+replacement+therapy+for+Fabry+disease&rft.volume=75&rft.issue=1&rft.pages=%3Cspan+class%3D%22nowrap%22%3E65-%3C%2Fspan%3E74&rft.date=2004-07&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1182009%23id-name%3DPMC&rft_id=info%3Apmid%2F15154115&rft_id=info%3Adoi%2F10.1086%2F422366&rft.aulast=Wilcox&rft.aufirst=WR&rft.au=Banikazemi%2C+M&rft.au=Guffon%2C+N&rft.au=Waldek%2C+S&rft.au=Lee%2C+P&rft.au=Linthorst%2C+GE&rft.au=Desnick%2C+RJ&rft.au=Germain%2C+DP&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1182009&rfr_id=info%3Asid%2Fen.wikipedia.org%3AFabry+disease" class="Z3988"></span></li></ul> </div> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fabry_disease&action=edit&section=20" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <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 .navbox-group,.mw-parser-output .navbox-title,.mw-parser-output .navbox-abovebelow{padding:0.25em 1em;line-height:1.5em;text-align:center}.mw-parser-output .navbox-group{white-space:nowrap;text-align:right}.mw-parser-output .navbox,.mw-parser-output .navbox-subgroup{background-color:#fdfdfd}.mw-parser-output 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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/Q615645" class="extiw" title="d:Q615645">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#/E75.2">E75.2</a> (<a href="/wiki/ILDS" class="mw-redirect" title="ILDS">ILDS</a> E75.25)</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=272.7">272.7</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/301500">301500</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=D000795">D000795</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/ddb4638.htm">4638</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/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/neuro/579-overview">neuro/579</a> <a rel="nofollow" class="external text" href="https://www.emedicine.com/derm/topic707.htm#">derm/707</a> <a rel="nofollow" class="external text" href="https://www.emedicine.com/ped/topic2888.htm#">ped/2888</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/NBK1292/">Fabry disease</a></li></ul></div></div></td></tr></tbody></table></div> <ul><li><a rel="nofollow" class="external text" href="http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm">Fabry Disease Information Page</a> <a rel="nofollow" class="external text" href="https://web.archive.org/web/20161202231054/http://www.ninds.nih.gov/disorders/fabrys/fabrys.htm">Archived</a> 2 December 2016 at the <a href="/wiki/Wayback_Machine" title="Wayback Machine">Wayback Machine</a> at <a href="/wiki/NINDS" class="mw-redirect" title="NINDS">NINDS</a></li> <li><a rel="nofollow" class="external text" href="http://ghr.nlm.nih.gov/condition=fabrydisease">Fabry disease</a> at <a href="/wiki/United_States_National_Library_of_Medicine" title="United States National Library of Medicine">NLM</a> Genetics Home Reference</li></ul> <style data-mw-deduplicate="TemplateStyles:r1130092004">.mw-parser-output .portal-bar{font-size:88%;font-weight:bold;display:flex;justify-content:center;align-items:baseline}.mw-parser-output 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