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data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Abetalipoprotein%C3%A4mie" title="Abetalipoproteinämie – German" lang="de" hreflang="de" data-title="Abetalipoproteinämie" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Abetalipoproteinemia" title="Abetalipoproteinemia – Spanish" lang="es" hreflang="es" data-title="Abetalipoproteinemia" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/A-b%C3%AAta-lipoprot%C3%A9in%C3%A9mie" title="A-bêta-lipoprotéinémie – French" lang="fr" hreflang="fr" data-title="A-bêta-lipoprotéinémie" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-hr mw-list-item"><a href="https://hr.wikipedia.org/wiki/Abetalipoproteinemija" title="Abetalipoproteinemija – Croatian" lang="hr" hreflang="hr" data-title="Abetalipoproteinemija" data-language-autonym="Hrvatski" data-language-local-name="Croatian" class="interlanguage-link-target"><span>Hrvatski</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Abetalipoproteinemia" title="Abetalipoproteinemia – Italian" lang="it" hreflang="it" data-title="Abetalipoproteinemia" 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%90%D7%91%D7%98%D7%90%D7%9C%D7%99%D7%A4%D7%95%D7%A4%D7%A8%D7%95%D7%98%D7%90%D7%99%D7%A0%D7%9E%D7%99%D7%94" title="אבטאליפופרוטאינמיה – Hebrew" lang="he" hreflang="he" data-title="אבטאליפופרוטאינמיה" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Abetalipoproteinemia" title="Abetalipoproteinemia – Polish" lang="pl" hreflang="pl" data-title="Abetalipoproteinemia" 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/S%C3%ADndrome_de_Bassen-Kornzweig" title="Síndrome de Bassen-Kornzweig – Portuguese" lang="pt" hreflang="pt" data-title="Síndrome de Bassen-Kornzweig" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ro mw-list-item"><a href="https://ro.wikipedia.org/wiki/Abetalipoproteinemie" title="Abetalipoproteinemie – Romanian" lang="ro" hreflang="ro" data-title="Abetalipoproteinemie" data-language-autonym="Română" data-language-local-name="Romanian" class="interlanguage-link-target"><span>Română</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/Abetalipoproteinemija" title="Abetalipoproteinemija – Serbian" lang="sr" hreflang="sr" data-title="Abetalipoproteinemija" 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-tt mw-list-item"><a href="https://tt.wikipedia.org/wiki/%D0%91%D0%B0%D1%81%D1%81%D0%B5%D0%BD-%D0%9A%D0%BE%D1%80%D0%BD%D0%B7%D0%B2%D0%B5%D0%B9%D0%B3_%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC%D1%8B" title="Бассен-Корнзвейг синдромы – Tatar" lang="tt" hreflang="tt" data-title="Бассен-Корнзвейг синдромы" 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/Abetalipoproteinemi" title="Abetalipoproteinemi – Turkish" lang="tr" hreflang="tr" data-title="Abetalipoproteinemi" data-language-autonym="Türkçe" data-language-local-name="Turkish" class="interlanguage-link-target"><span>Türkçe</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/Q319812#sitelinks-wikipedia" title="Edit interlanguage links" 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Unsourced material may be challenged and removed.<br /><small><span class="plainlinks"><i>Find sources:</i> <a rel="nofollow" class="external text" href="https://www.google.com/search?as_eq=wikipedia&q=%22Abetalipoproteinemia%22">"Abetalipoproteinemia"</a> – <a rel="nofollow" class="external text" href="https://www.google.com/search?tbm=nws&q=%22Abetalipoproteinemia%22+-wikipedia&tbs=ar:1">news</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.google.com/search?&q=%22Abetalipoproteinemia%22&tbs=bkt:s&tbm=bks">newspapers</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.google.com/search?tbs=bks:1&q=%22Abetalipoproteinemia%22+-wikipedia">books</a> <b>·</b> <a rel="nofollow" class="external text" href="https://scholar.google.com/scholar?q=%22Abetalipoproteinemia%22">scholar</a> <b>·</b> <a rel="nofollow" class="external text" href="https://www.jstor.org/action/doBasicSearch?Query=%22Abetalipoproteinemia%22&acc=on&wc=on">JSTOR</a></span></small></span> <span class="date-container"><i>(<span class="date">January 2020</span>)</i></span><span class="hide-when-compact"><i> (<small><a href="/wiki/Help:Maintenance_template_removal" title="Help:Maintenance template removal">Learn how and when to remove this message</a></small>)</i></span></div></td></tr></tbody></table> <p class="mw-empty-elt"> </p> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">Abetalipoproteinemia</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">Bassen-Kornzweig syndrome<sup id="cite_ref-pmid15411425_1-0" class="reference"><a href="#cite_note-pmid15411425-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup></td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span typeof="mw:File"><a href="/wiki/File:Abetalipoproteinemia_-_very_high_mag.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/2/25/Abetalipoproteinemia_-_very_high_mag.jpg/175px-Abetalipoproteinemia_-_very_high_mag.jpg" decoding="async" width="175" height="263" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/2/25/Abetalipoproteinemia_-_very_high_mag.jpg/263px-Abetalipoproteinemia_-_very_high_mag.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/2/25/Abetalipoproteinemia_-_very_high_mag.jpg/350px-Abetalipoproteinemia_-_very_high_mag.jpg 2x" data-file-width="2848" data-file-height="4272" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data"><a href="/wiki/Micrograph" title="Micrograph">Micrograph</a> showing <a href="/wiki/Enterocyte" title="Enterocyte">enterocytes</a> with a clear <a href="/wiki/Cytoplasm" title="Cytoplasm">cytoplasm</a> (due to lipid accumulation) characteristic of abetalipoproteinemia. <a href="/wiki/Duodenum" title="Duodenum">Duodenal</a> <a href="/wiki/Biopsy" title="Biopsy">biopsy</a>. <a href="/wiki/H%26E_stain" title="H&E stain">H&E stain</a>.</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Endocrinology" title="Endocrinology">Endocrinology</a> <span class="penicon autoconfirmed-show"><span class="mw-valign-text-top" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q319812?uselang=en#P1995" title="Edit this on Wikidata"><img alt="Edit this on Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></span></td></tr></tbody></table> <p><b>Abetalipoproteinemia</b> (also known as: <b>Bassen–Kornzweig syndrome</b>, <b>microsomal triglyceride transfer protein deficiency disease</b>, <b>MTP deficiency</b>, and <b>betalipoprotein deficiency syndrome</b><sup id="cite_ref-GARD_2-0" class="reference"><a href="#cite_note-GARD-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup>) is a disorder characterized by abnormal absorption of fat and fat-soluble vitamins from food.<sup id="cite_ref-GHR_3-0" class="reference"><a href="#cite_note-GHR-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> It is caused by a mutation in <a href="/wiki/Microsomal_triglyceride_transfer_protein" title="Microsomal triglyceride transfer protein">microsomal triglyceride transfer protein</a> resulting in deficiencies in the apolipoproteins B-48 and B-100, which are used in the synthesis and exportation of <a href="/wiki/Chylomicrons" class="mw-redirect" title="Chylomicrons">chylomicrons</a> and <a href="/wiki/VLDL" class="mw-redirect" title="VLDL">VLDL</a> respectively. It is not to be confused with <a href="/wiki/Familial_dysbetalipoproteinemia" title="Familial dysbetalipoproteinemia">familial dysbetalipoproteinemia</a>. </p><p>It is a rare <a href="/wiki/Autosomal_recessive" class="mw-redirect" title="Autosomal recessive">autosomal recessive</a> disorder.<sup id="cite_ref-pmid17275380_4-0" class="reference"><a href="#cite_note-pmid17275380-4"><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="Presentation">Presentation</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Abetalipoproteinemia&action=edit&section=1" title="Edit section: Presentation"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="mw-heading mw-heading3"><h3 id="Symptoms">Symptoms</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Abetalipoproteinemia&action=edit&section=2" title="Edit section: Symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Initial symptoms usually appear in infancy,<sup id="cite_ref-MedlinePlus_2018_k111_5-0" class="reference"><a href="#cite_note-MedlinePlus_2018_k111-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Burnett_2022_6-0" class="reference"><a href="#cite_note-Burnett_2022-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> including: </p> <ul><li><a href="/wiki/Failure_to_thrive" title="Failure to thrive">Failure to thrive</a> (i.e. failure to grow in infancy)<sup id="cite_ref-pmid20953537_7-0" class="reference"><a href="#cite_note-pmid20953537-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Steatorrhea" title="Steatorrhea">Steatorrhea</a> (i.e. fatty, pale stools)<sup id="cite_ref-pmid20953537_7-1" class="reference"><a href="#cite_note-pmid20953537-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid20626336_8-0" class="reference"><a href="#cite_note-pmid20626336-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup></li> <li>Frothy stools<sup id="cite_ref-pmid20953537_7-2" class="reference"><a href="#cite_note-pmid20953537-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup></li> <li>Foul smelling stools<sup id="cite_ref-pmid20953537_7-3" class="reference"><a href="#cite_note-pmid20953537-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup></li> <li>Protruding abdomen<sup id="cite_ref-Hussain_2023_9-0" class="reference"><a href="#cite_note-Hussain_2023-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup></li></ul> <p>The rate of occurrence of additional symptoms later in life varies and increases with age.<sup id="cite_ref-Burnett_2022_6-1" class="reference"><a href="#cite_note-Burnett_2022-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> These may include: </p> <ul><li><a href="/wiki/Intellectual_disability" title="Intellectual disability">Intellectual disability</a>/developmental delay<sup id="cite_ref-Hussain_2023_9-1" class="reference"><a href="#cite_note-Hussain_2023-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Ataxia" title="Ataxia">Ataxia</a> (problems with balance and movement)<sup id="cite_ref-Burnett_2022_6-2" class="reference"><a href="#cite_note-Burnett_2022-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-MedlinePlus_2018_k111_5-1" class="reference"><a href="#cite_note-MedlinePlus_2018_k111-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></li> <li>Muscle weakness<sup id="cite_ref-Burnett_2022_6-3" class="reference"><a href="#cite_note-Burnett_2022-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup></li> <li>Slurred speech (<a href="/wiki/Dysarthria" title="Dysarthria">dysarthria</a>)<sup id="cite_ref-MedlinePlus_2018_k111_5-2" class="reference"><a href="#cite_note-MedlinePlus_2018_k111-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Lordosis" title="Lordosis">Lordosis</a> (curved lower back) and <a href="/wiki/Kyphoscoliosis" title="Kyphoscoliosis">kyphoscoliosis</a> (curved upper back)<sup id="cite_ref-MedlinePlus_2018_k111_5-3" class="reference"><a href="#cite_note-MedlinePlus_2018_k111-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></li> <li>Progressive decreased vision<sup id="cite_ref-Burnett_2022_6-4" class="reference"><a href="#cite_note-Burnett_2022-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-MedlinePlus_2018_k111_5-4" class="reference"><a href="#cite_note-MedlinePlus_2018_k111-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></li> <li>Reflex and proprioception problems<sup id="cite_ref-Burnett_2022_6-5" class="reference"><a href="#cite_note-Burnett_2022-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup></li></ul> <div class="mw-heading mw-heading3"><h3 id="Signs">Signs</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Abetalipoproteinemia&action=edit&section=3" title="Edit section: Signs"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><a href="/wiki/Acanthocyte" title="Acanthocyte">Acanthocytosis</a><sup id="cite_ref-pmid20953537_7-4" class="reference"><a href="#cite_note-pmid20953537-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid874076_10-0" class="reference"><a href="#cite_note-pmid874076-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Retinitis_pigmentosa" title="Retinitis pigmentosa">Retinitis pigmentosa</a><sup id="cite_ref-MedlinePlus_2018_k111_5-5" class="reference"><a href="#cite_note-MedlinePlus_2018_k111-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Hypocholesterolemia" title="Hypocholesterolemia">Low blood cholesterol</a><sup id="cite_ref-pmid20626336_8-1" class="reference"><a href="#cite_note-pmid20626336-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup></li></ul> <div class="mw-heading mw-heading3"><h3 id="Features">Features</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Abetalipoproteinemia&action=edit&section=4" title="Edit section: Features"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Abetalipoproteinemia affects the absorption of dietary fats, <a href="/wiki/Cholesterol" title="Cholesterol">cholesterol</a>, and certain <a href="/wiki/Vitamin" title="Vitamin">vitamins</a>. People affected by this disorder are not able to make certain <a href="/wiki/Lipoprotein" title="Lipoprotein">lipoproteins</a>, which are <a href="/wiki/Molecule" title="Molecule">molecules</a> that consist of <a href="/wiki/Protein" title="Protein">proteins</a> combined with cholesterol and particular fats called <a href="/wiki/Triglyceride" title="Triglyceride">triglycerides</a>. This leads to a multiple vitamin deficiency, affecting the fat-soluble <a href="/wiki/Retinol" title="Retinol">vitamin A</a>, <a href="/wiki/Vitamin_D" title="Vitamin D">vitamin D</a>, <a href="/wiki/Tocopherol" title="Tocopherol">vitamin E</a>, and <a href="/wiki/Vitamin_K" title="Vitamin K">vitamin K</a>.<sup id="cite_ref-titleAbetalipoproteinemia_-_Genetics_Home_Reference_11-0" class="reference"><a href="#cite_note-titleAbetalipoproteinemia_-_Genetics_Home_Reference-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> However, many of the observed effects are due to vitamin E deficiency in particular.<sup id="cite_ref-titleAbetalipoproteinemia_-_Genetics_Home_Reference_11-1" class="reference"><a href="#cite_note-titleAbetalipoproteinemia_-_Genetics_Home_Reference-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> </p> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Acanthocytosis.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/e/e5/Acanthocytosis.jpg/220px-Acanthocytosis.jpg" decoding="async" width="220" height="164" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/e/e5/Acanthocytosis.jpg/330px-Acanthocytosis.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/e/e5/Acanthocytosis.jpg/440px-Acanthocytosis.jpg 2x" data-file-width="902" data-file-height="671" /></a><figcaption><a href="/wiki/Acanthocytosis" class="mw-redirect" title="Acanthocytosis">Acanthocytosis</a> in a patient with abetalipoproteinemia.</figcaption></figure> <p>Signs and symptoms vary and present differently from person to person. In general, 80–99% of individuals exhibit malabsorption of fats and fat-soluble vitamins. Approximately 30–79% of people with the disease display symptoms related to abnormality of the retinal pigmentation, ataxia, muscular hypotonia or reduced tendon reflexes.<sup id="cite_ref-GARD_2-1" class="reference"><a href="#cite_note-GARD-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p><p>The signs and symptoms of abetalipoproteinemia appear in the first few months of life (because pancreatic lipase is not active in this period). They can include failure to gain weight and grow at the expected rate (<a href="/wiki/Failure_to_thrive" title="Failure to thrive">failure to thrive</a>); diarrhea; abnormal spiny red blood cells (<a href="/wiki/Acanthocyte" title="Acanthocyte">acanthocytosis</a>); and fatty, foul-smelling stools (<a href="/wiki/Steatorrhea" title="Steatorrhea">steatorrhea</a>).<sup id="cite_ref-titleAbetalipoproteinemia_-_Genetics_Home_Reference_11-2" class="reference"><a href="#cite_note-titleAbetalipoproteinemia_-_Genetics_Home_Reference-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> The stool may contain large chunks of fat and/or blood. Infants often present with gastrointestinal problems caused by the poor fat absorption, which also contributes to steatorrhea. Other features of this disorder may develop later in childhood and often impair the function of the nervous system. They can include poor muscle coordination, difficulty with balance and movement (<a href="/wiki/Ataxia" title="Ataxia">ataxia</a>),<sup id="cite_ref-titleAbetalipoproteinemia_-_Genetics_Home_Reference_11-3" class="reference"><a href="#cite_note-titleAbetalipoproteinemia_-_Genetics_Home_Reference-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Hentati_12-0" class="reference"><a href="#cite_note-Hentati-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> and progressive degeneration of the <a href="/wiki/Retina" title="Retina">retina</a> (the light-sensitive layer in the posterior eye) that can progress to near-blindness (due to deficiency of vitamin A, retinol).<sup id="cite_ref-titleAbetalipoproteinemia_-_Genetics_Home_Reference_11-4" class="reference"><a href="#cite_note-titleAbetalipoproteinemia_-_Genetics_Home_Reference-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> Adults in their thirties or forties may have increasing difficulty with balance and walking. Many of the signs and symptoms of abetalipoproteinemia result from a severe vitamin deficiency, especially vitamin E deficiency, which typically results in eye problems with degeneration of the spinocerebellar and dorsal column tracts.<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. (May 2021)">citation needed</span></a></i>]</sup> </p> <div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Abetalipoproteinemia&action=edit&section=5" title="Edit section: Genetics"><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:Autorecessive.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/3/3e/Autorecessive.svg/220px-Autorecessive.svg.png" decoding="async" width="220" height="257" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/3/3e/Autorecessive.svg/330px-Autorecessive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/3/3e/Autorecessive.svg/440px-Autorecessive.svg.png 2x" data-file-width="1350" data-file-height="1580" /></a><figcaption>Abetalipoproteinemia has an autosomal recessive pattern of <a href="/wiki/Inheritance" title="Inheritance">inheritance</a>.</figcaption></figure> <p>Mutations in the <a href="/wiki/Microsomal_triglyceride_transfer_protein" title="Microsomal triglyceride transfer protein">microsomal triglyceride transfer protein</a> gene (<i>MTTP</i>) have been associated with this condition<sup id="cite_ref-titleAbetalipoproteinemia_-_Genetics_Home_Reference_11-5" class="reference"><a href="#cite_note-titleAbetalipoproteinemia_-_Genetics_Home_Reference-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup> (<a href="/wiki/Apolipoprotein_B_deficiency" title="Apolipoprotein B deficiency">apolipoprotein B deficiency</a>, a related condition, is associated with deficiencies of <a href="/wiki/Apolipoprotein_B" title="Apolipoprotein B">apolipoprotein B</a>).<sup id="cite_ref-pmid22353470_13-0" class="reference"><a href="#cite_note-pmid22353470-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p><p>The <i>MTTP</i> gene provides instructions for making a protein called microsomal triglyceride transfer protein, which is essential for creating beta-lipoproteins.<sup id="cite_ref-pmid23556456_14-0" class="reference"><a href="#cite_note-pmid23556456-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> These lipoproteins are both necessary for the absorption of fats, cholesterol, and fat-soluble vitamins from the diet and necessary for the efficient transport of these substances in the bloodstream.<sup id="cite_ref-pmid23043934_15-0" class="reference"><a href="#cite_note-pmid23043934-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> Most of the mutations in this gene lead to the production of an abnormally short microsomal triglyceride transfer protein, which prevents the normal creation of beta-lipoproteins in the body.<sup id="cite_ref-pmid21394827_16-0" class="reference"><a href="#cite_note-pmid21394827-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> MTTP-associated mutations are inherited in an <a href="/wiki/Autosomal" class="mw-redirect" title="Autosomal">autosomal</a> <a href="/wiki/Recessive" class="mw-redirect" title="Recessive">recessive</a> pattern, which means both copies of the gene must be faulty to produce the disease.<sup id="cite_ref-pmid21394827_16-1" class="reference"><a href="#cite_note-pmid21394827-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p><p>The disease is extremely rare with approximately 100 reported cases worldwide since it was first identified by doctors Bassen and Kornzweig in 1950.<sup id="cite_ref-GHR_3-1" class="reference"><a href="#cite_note-GHR-3"><span class="cite-bracket">[</span>3<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=Abetalipoproteinemia&action=edit&section=6" title="Edit section: Mechanism"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Abetalipoproteinemia effects multiple physiological systems, the two most common being the nervous and the skeletal. Disruption of nervous function includes loss of reflexes, speech impairments, tremors or involuntary motor tics, or peripheral neuropathy (damage to the nerves outside of the brain and spinal cord). Peripheral neuropathy causes loss of sensation, weakness or numbness and pain in the extremities through stabbing, burning, or tingling sensations.<sup id="cite_ref-17" class="reference"><a href="#cite_note-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> Skeletal system developments often include <a href="/wiki/Lordosis" title="Lordosis">lordosis</a>, <a href="/wiki/Kyphoscoliosis" title="Kyphoscoliosis">kyphoscoliosis</a>, or <a href="/wiki/Pes_cavus" title="Pes cavus">pes cavus</a>.<sup id="cite_ref-GHR_3-2" class="reference"><a href="#cite_note-GHR-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Individuals often have abnormal bleeding due to the difficulty of forming clots.<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. (May 2021)">citation needed</span></a></i>]</sup> </p><p>Additional complications of the diseases if not properly treated include blindness, mental deterioration, ataxia, loss of peripheral nerve function.<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. (May 2021)">citation needed</span></a></i>]</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=Abetalipoproteinemia&action=edit&section=7" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The initial workup of Abetalipoproteinemia typically consists of stool sampling, a blood smear, and a fasting lipid panel, though these tests are not confirmatory.<sup id="cite_ref-pmid15765527_18-0" class="reference"><a href="#cite_note-pmid15765527-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup> As the disease is rare, though a genetics test is necessary for diagnosis, it is generally not done initially. However, prenatal testing may be available for pregnancies identified to be at an increased risk (if both parents are unaffected carrier or one parent is affected and the other in a carrier).{<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><p><a href="/wiki/Acanthocytes" class="mw-redirect" title="Acanthocytes">Acanthocytes</a> are seen on blood smear.<sup id="cite_ref-pmid21534356_20-0" class="reference"><a href="#cite_note-pmid21534356-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> Since there is no or little assimilation of <a href="/wiki/Chylomicron" title="Chylomicron">chylomicrons</a>, their levels in <a href="/wiki/Blood_plasma" title="Blood plasma">plasma</a> remains low.<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. (May 2021)">citation needed</span></a></i>]</sup> </p><p>The inability to absorb fat in the ileum will result in <a href="/wiki/Steatorrhea" title="Steatorrhea">steatorrhea</a>, or fat in the stool. As a result, this can be clinically diagnosed when foul-smelling stool is encountered. Low levels of plasma <a href="/wiki/Chylomicron" title="Chylomicron">chylomicron</a> are also characteristic.<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. (May 2021)">citation needed</span></a></i>]</sup> </p><p>There is an absence of <a href="/wiki/Apolipoprotein_B" title="Apolipoprotein B">apolipoprotein B</a>. On intestinal <a href="/wiki/Biopsy" title="Biopsy">biopsy</a>, <a href="/wiki/Vacuole" title="Vacuole">vacuoles</a> containing lipids are seen in enterocytes. This disorder may also result in fat accumulation in the liver (hepatic steatosis). Because the epithelial cells of the bowel lack the ability to place fats into chylomicrons, lipids accumulate at the surface of the cell, crowding the functions that are necessary for proper absorption.<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. (May 2021)">citation needed</span></a></i>]</sup> </p><p>Multiple related disorders present with similar symptoms as abetalipoproteinemia that can provide a useful diagnosis through comparisons. Some of those disorders are:<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. (May 2021)">citation needed</span></a></i>]</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=Abetalipoproteinemia&action=edit&section=8" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Treatment normally consists of rigorous dieting, involving massive amounts of <a href="/wiki/Vitamin_E" title="Vitamin E">vitamin E</a>.<sup id="cite_ref-Hentati_12-1" class="reference"><a href="#cite_note-Hentati-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> High-dose Vitamin E therapy helps the body restore and produce lipoproteins, which people with abetalipoproteinemia usually lack. Vitamin E also helps keep skin and eyes healthy; studies show that many affected males will have vision problems later on in life. Common additional supplementation includes medium chain fatty acids and linoleic acid. Treatments also aim to slow the progression of nervous system abnormalities. Developmental coordination disorder and muscle weakness are usually treated with physiotherapy or <a href="/wiki/Occupational_therapy" title="Occupational therapy">occupational therapy</a>. Dietary restriction of <a href="/wiki/Triglyceride" title="Triglyceride">triglycerides</a> has also been useful. Nutritionists often work with medical professionals to design appropriate dietary treatments for their patients.<sup id="cite_ref-GARD_2-2" class="reference"><a href="#cite_note-GARD-2"><span class="cite-bracket">[</span>2<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=Abetalipoproteinemia&action=edit&section=9" title="Edit section: Prognosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Prognosis can vary heavily based on the severity of the neurological dysfunction. If treatment is initiated early in disease the neurologic sequelae may be reversed and further deterioration can be prevented.<sup id="cite_ref-pmid8340987_21-0" class="reference"><a href="#cite_note-pmid8340987-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> Long-term outlook is reasonably good for most people when diagnosed and treated early. A case study presented a female patient diagnosed at the age of 11. Despite the relatively late diagnosis, the patient married and at the age of 34, gave birth to a full-term healthy infant. Her medication included vitamin K 10 mg twice a week, beta-carotene 40,000 IU daily, vitamin A 10,000 IU daily, vitamin E 400 IU daily, vitamins B6 and B12, calcium, magnesium and eye drops.<sup id="cite_ref-22" class="reference"><a href="#cite_note-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> </p><p>Prolonged vitamin deficiencies can further compromise health. Specifically, a prolonged vitamin E deficiency can lead to the development of limiting <a href="/wiki/Ataxia" title="Ataxia">ataxia</a> and <a href="/wiki/Gait_deviations" title="Gait deviations">gait disturbances</a>. Some individuals may develop <a href="/wiki/Retinopathy" title="Retinopathy">retinal degeneration</a> and blindness. If left untreated, the condition may lead to death.'<sup id="cite_ref-GARD_2-3" class="reference"><a href="#cite_note-GARD-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Current_research">Current research</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Abetalipoproteinemia&action=edit&section=10" title="Edit section: Current research"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>A primary goal of abetalipoproteinemia research is to supply the fat-soluble vitamins the body lacks in the disease. Previous research considered the short-term use of intravenous infusion of vitamins A and E. The goal was to determine whether these infusions would delay or counteract the symptoms in patients. No results were posted.<sup id="cite_ref-23" class="reference"><a href="#cite_note-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p><p>More recent research has focused on different ways to supply the patient with vitamin E. In 2018, the <i>Journal of Lipid Research</i> published a study testing alternative forms of vitamin E absorption. Currently, vitamin E is most often supplemented in the fat-soluble form vitamin E acetate. Due to fat malabsorption, the intended supplementation is considerably compromised. Two different forms were tested: vitamin E tocofersolan and α-tocopherol acetate. The study concluded that plasma bioavailabilities were extremely low (2.8% and 3.1%, respectively). Additionally, plasma concentrations of tocopherol were not significantly different in patients.<sup id="cite_ref-24" class="reference"><a href="#cite_note-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup> </p><p>This study provides new insight in vitamin E supplementation and suggests further research is needed with different forms of vitamin E as possible treatment options to abetalipoproteinemia.<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> </p><p>Currently, there is a clinical study recruiting abetalipoproteinemia patients to study inherited retinal degenerative disease.<sup id="cite_ref-26" class="reference"><a href="#cite_note-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> There is also a second clinical study, currently under recruitment, to investigate the consequences of deficiencies in lipophilic nutrients in this disease, such as lutein and carotenes, on retinal macular function. <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> </p> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Abetalipoproteinemia&action=edit&section=11" 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-pmid15411425-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid15411425_1-0">^</a></b></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 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"Abetalipoproteinemia. New insights into lipoprotein assembly and vitamin E metabolism from a rare genetic disease". <i>JAMA</i>. <b>270</b> (7): 865–9. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1001%2Fjama.1993.03510070087042">10.1001/jama.1993.03510070087042</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/8340987">8340987</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=Abetalipoproteinemia.+New+insights+into+lipoprotein+assembly+and+vitamin+E+metabolism+from+a+rare+genetic+disease&rft.volume=270&rft.issue=7&rft.pages=865-9&rft.date=1993-08&rft_id=info%3Adoi%2F10.1001%2Fjama.1993.03510070087042&rft_id=info%3Apmid%2F8340987&rft.aulast=Rader&rft.aufirst=DJ&rft.au=Brewer%2C+HB&rfr_id=info%3Asid%2Fen.wikipedia.org%3AAbetalipoproteinemia" class="Z3988"></span></span> </li> <li id="cite_note-22"><span class="mw-cite-backlink"><b><a href="#cite_ref-22">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFZamelKhanPollexHegele2008" class="citation journal cs1">Zamel R, Khan R, Pollex RL, Hegele RA (July 2008). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2467409">"Abetalipoproteinemia: two case reports and literature review"</a>. <i>Orphanet Journal of Rare Diseases</i>. <b>3</b> (1): 19. <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/10.1186%2F1750-1172-3-19">10.1186/1750-1172-3-19</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/PMC2467409">2467409</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/18611256">18611256</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Orphanet+Journal+of+Rare+Diseases&rft.atitle=Abetalipoproteinemia%3A+two+case+reports+and+literature+review&rft.volume=3&rft.issue=1&rft.pages=19&rft.date=2008-07&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2467409%23id-name%3DPMC&rft_id=info%3Apmid%2F18611256&rft_id=info%3Adoi%2F10.1186%2F1750-1172-3-19&rft.aulast=Zamel&rft.aufirst=R&rft.au=Khan%2C+R&rft.au=Pollex%2C+RL&rft.au=Hegele%2C+RA&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2467409&rfr_id=info%3Asid%2Fen.wikipedia.org%3AAbetalipoproteinemia" class="Z3988"></span></span> </li> <li id="cite_note-23"><span class="mw-cite-backlink"><b><a href="#cite_ref-23">^</a></b></span> <span class="reference-text">Clinical trial number <i><a rel="nofollow" class="external text" href="https://www.clinicaltrials.gov/show/NCT00004574">NCT00004574</a></i> for "Vitamin Replacement in Abetalipoproteinemia" at <a href="/wiki/ClinicalTrials.gov" title="ClinicalTrials.gov">ClinicalTrials.gov</a></span> </li> <li id="cite_note-24"><span class="mw-cite-backlink"><b><a href="#cite_ref-24">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFCuerqHeninRestierBlond2018" class="citation journal cs1">Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, et al. (September 2018). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121919">"Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease"</a>. <i>Journal of Lipid Research</i>. <b>59</b> (9): 1640–1648. <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/10.1194%2Fjlr.M085043">10.1194/jlr.M085043</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/PMC6121919">6121919</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/30021760">30021760</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Lipid+Research&rft.atitle=Efficacy+of+two+vitamin+E+formulations+in+patients+with+abetalipoproteinemia+and+chylomicron+retention+disease&rft.volume=59&rft.issue=9&rft.pages=1640-1648&rft.date=2018-09&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC6121919%23id-name%3DPMC&rft_id=info%3Apmid%2F30021760&rft_id=info%3Adoi%2F10.1194%2Fjlr.M085043&rft.aulast=Cuerq&rft.aufirst=C&rft.au=Henin%2C+E&rft.au=Restier%2C+L&rft.au=Blond%2C+E&rft.au=Drai%2C+J&rft.au=Mar%C3%A7ais%2C+C&rft.au=Di+Filippo%2C+M&rft.au=Laveille%2C+C&rft.au=Michalski%2C+MC&rft.au=Poinsot%2C+P&rft.au=Caussy%2C+C&rft.au=Sassolas%2C+A&rft.au=Moulin%2C+P&rft.au=Reboul%2C+E&rft.au=Charriere%2C+S&rft.au=Levy%2C+E&rft.au=Lachaux%2C+A&rft.au=Peretti%2C+N&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC6121919&rfr_id=info%3Asid%2Fen.wikipedia.org%3AAbetalipoproteinemia" class="Z3988"></span></span> </li> <li id="cite_note-25"><span class="mw-cite-backlink"><b><a href="#cite_ref-25">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFCuerqHeninRestierBlond2018" class="citation journal cs1">Cuerq C, Henin E, Restier L, Blond E, Drai J, Marçais C, et al. (September 2018). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6121919">"Efficacy of two vitamin E formulations in patients with abetalipoproteinemia and chylomicron retention disease"</a>. <i>Journal of Lipid Research</i>. <b>59</b> (9): 1640–1648. <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/10.1194%2Fjlr.M085043">10.1194/jlr.M085043</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/PMC6121919">6121919</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/30021760">30021760</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Journal+of+Lipid+Research&rft.atitle=Efficacy+of+two+vitamin+E+formulations+in+patients+with+abetalipoproteinemia+and+chylomicron+retention+disease&rft.volume=59&rft.issue=9&rft.pages=1640-1648&rft.date=2018-09&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC6121919%23id-name%3DPMC&rft_id=info%3Apmid%2F30021760&rft_id=info%3Adoi%2F10.1194%2Fjlr.M085043&rft.aulast=Cuerq&rft.aufirst=C&rft.au=Henin%2C+E&rft.au=Restier%2C+L&rft.au=Blond%2C+E&rft.au=Drai%2C+J&rft.au=Mar%C3%A7ais%2C+C&rft.au=Di+Filippo%2C+M&rft.au=Laveille%2C+C&rft.au=Michalski%2C+MC&rft.au=Poinsot%2C+P&rft.au=Caussy%2C+C&rft.au=Sassolas%2C+A&rft.au=Moulin%2C+P&rft.au=Reboul%2C+E&rft.au=Charriere%2C+S&rft.au=Levy%2C+E&rft.au=Lachaux%2C+A&rft.au=Peretti%2C+N&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC6121919&rfr_id=info%3Asid%2Fen.wikipedia.org%3AAbetalipoproteinemia" class="Z3988"></span></span> </li> <li id="cite_note-26"><span class="mw-cite-backlink"><b><a href="#cite_ref-26">^</a></b></span> <span class="reference-text">Clinical trial number <i><a rel="nofollow" class="external text" href="https://www.clinicaltrials.gov/show/NCT02435940">NCT02435940</a></i> for "Inherited Retinal Degenerative Disease Registry" at <a href="/wiki/ClinicalTrials.gov" title="ClinicalTrials.gov">ClinicalTrials.gov</a></span> </li> <li id="cite_note-27"><span class="mw-cite-backlink"><b><a href="#cite_ref-27">^</a></b></span> <span class="reference-text">Clinical trial number <i><a rel="nofollow" class="external text" href="https://www.clinicaltrials.gov/show/NCT05208879">NCT05208879</a></i> for "CArotenoid in hypoChOlesterolemia (CaCo)" at <a href="/wiki/ClinicalTrials.gov" title="ClinicalTrials.gov">ClinicalTrials.gov</a></span> </li> </ol></div></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=Abetalipoproteinemia&action=edit&section=12" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><i><a rel="nofollow" class="external text" href="https://ghr.nlm.nih.gov/condition=abetalipoproteinemia">Abetalipoproteinemia</a></i> at <a href="/wiki/U.S._National_Library_of_Medicine" class="mw-redirect" title="U.S. National Library of Medicine">NLM</a> Genetics Home Reference</li></ul> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox .navbox{margin-top:0}.mw-parser-output .navbox+.navbox,.mw-parser-output .navbox+.navbox-styles+.navbox{margin-top:-1px}.mw-parser-output .navbox-inner,.mw-parser-output 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li{margin:0;display:inline}.mw-parser-output .hlist.inline,.mw-parser-output .hlist.inline dl,.mw-parser-output .hlist.inline ol,.mw-parser-output .hlist.inline ul,.mw-parser-output .hlist dl dl,.mw-parser-output .hlist dl ol,.mw-parser-output .hlist dl ul,.mw-parser-output .hlist ol dl,.mw-parser-output .hlist ol ol,.mw-parser-output .hlist ol ul,.mw-parser-output .hlist ul dl,.mw-parser-output .hlist ul ol,.mw-parser-output .hlist ul ul{display:inline}.mw-parser-output .hlist .mw-empty-li{display:none}.mw-parser-output .hlist dt::after{content:": "}.mw-parser-output .hlist dd::after,.mw-parser-output .hlist li::after{content:" · ";font-weight:bold}.mw-parser-output .hlist dd:last-child::after,.mw-parser-output .hlist dt:last-child::after,.mw-parser-output .hlist li:last-child::after{content:none}.mw-parser-output .hlist dd dd:first-child::before,.mw-parser-output .hlist dd dt:first-child::before,.mw-parser-output .hlist dd li:first-child::before,.mw-parser-output .hlist dt dd:first-child::before,.mw-parser-output .hlist dt dt:first-child::before,.mw-parser-output .hlist dt li:first-child::before,.mw-parser-output .hlist li dd:first-child::before,.mw-parser-output .hlist li dt:first-child::before,.mw-parser-output .hlist li li:first-child::before{content:" (";font-weight:normal}.mw-parser-output .hlist dd dd:last-child::after,.mw-parser-output .hlist dd dt:last-child::after,.mw-parser-output .hlist dd li:last-child::after,.mw-parser-output .hlist dt dd:last-child::after,.mw-parser-output .hlist dt dt:last-child::after,.mw-parser-output .hlist dt li:last-child::after,.mw-parser-output .hlist li dd:last-child::after,.mw-parser-output .hlist li dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q319812" class="extiw" title="d:Q319812">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#/E78.6">E78.6</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=272.5">272.5</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/200100">200100</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=D000012">D000012</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/ddb17.htm">17</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/MedlinePlus" title="MedlinePlus">MedlinePlus</a></b>: <a rel="nofollow" class="external text" href="https://www.nlm.nih.gov/medlineplus/ency/article/001666.htm">001666</a></li><li><b><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/med/1117-overview">med/1117</a></li><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=14">14</a></li></ul></div></div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Inborn_error_of_lipid_metabolism:_dyslipidemia" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output 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of lipid metabolism">lipid metabolism</a>: <a href="/wiki/Dyslipidemia" title="Dyslipidemia">dyslipidemia</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hyperlipidemia" title="Hyperlipidemia">Hyperlipidemia</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Hypercholesterolemia" title="Hypercholesterolemia">Hypercholesterolemia</a>/<a href="/wiki/Hypertriglyceridemia" title="Hypertriglyceridemia">Hypertriglyceridemia</a> <ul><li><a href="/wiki/Lipoprotein_lipase_deficiency" title="Lipoprotein lipase deficiency">Lipoprotein lipase deficiency/Type Ia</a></li> <li><a href="/wiki/Familial_apoprotein_CII_deficiency" class="mw-redirect" title="Familial apoprotein CII deficiency">Familial apoprotein CII deficiency/Type Ib</a></li> <li><a href="/wiki/Familial_hypercholesterolemia" title="Familial hypercholesterolemia">Familial hypercholesterolemia/Type IIa</a></li> <li><a href="/wiki/Combined_hyperlipidemia" title="Combined hyperlipidemia">Combined hyperlipidemia/Type IIb</a></li> <li><a href="/wiki/Familial_dysbetalipoproteinemia" title="Familial dysbetalipoproteinemia">Familial dysbetalipoproteinemia/Type III</a></li> <li><a href="/wiki/Familial_hypertriglyceridemia" title="Familial hypertriglyceridemia">Familial hypertriglyceridemia/Type IV</a></li></ul></li> <li><a href="/wiki/Xanthoma" title="Xanthoma">Xanthoma/Xanthomatosis</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hypolipoproteinemia" title="Hypolipoproteinemia">Hypolipoproteinemia</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hypoalphalipoproteinemia" title="Hypoalphalipoproteinemia">Hypoalphalipoproteinemia/HDL</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lecithin_cholesterol_acyltransferase_deficiency" title="Lecithin cholesterol acyltransferase deficiency">Lecithin cholesterol acyltransferase deficiency</a></li> <li><a href="/wiki/Tangier_disease" title="Tangier disease">Tangier disease</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hypobetalipoproteinemia" title="Hypobetalipoproteinemia">Hypobetalipoproteinemia/LDL</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a class="mw-selflink selflink">Abetalipoproteinemia</a></li> <li><a href="/wiki/Apolipoprotein_B_deficiency" title="Apolipoprotein B deficiency">Apolipoprotein B deficiency</a></li> <li><a href="/wiki/Chylomicron_retention_disease" title="Chylomicron retention disease">Chylomicron retention disease</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lipodystrophy" title="Lipodystrophy">Lipodystrophy</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Barraquer%E2%80%93Simons_syndrome" title="Barraquer–Simons syndrome">Barraquer–Simons syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lipomatosis" title="Lipomatosis">Lipomatosis</a></li> <li><a href="/wiki/Adiposis_dolorosa" title="Adiposis dolorosa">Adiposis dolorosa</a></li> <li><a href="/wiki/Urbach%E2%80%93Wiethe_disease" title="Urbach–Wiethe disease">Lipoid proteinosis</a></li> <li><a href="/wiki/Familial_renal_amyloidosis" title="Familial renal amyloidosis">APOA1 familial renal amyloidosis</a></li></ul> </div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=Abetalipoproteinemia&oldid=1252232352">https://en.wikipedia.org/w/index.php?title=Abetalipoproteinemia&oldid=1252232352</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a href="/wiki/Help:Category" title="Help:Category">Categories</a>: <ul><li><a href="/wiki/Category:Autosomal_recessive_disorders" title="Category:Autosomal recessive disorders">Autosomal recessive 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