294 lines
No EOL
32 KiB
HTML
294 lines
No EOL
32 KiB
HTML
<!DOCTYPE html>
|
||
<html lang="en" id="article" class="nojs us" data-root="//medlineplus.gov" itemid="https://medlineplus.gov/ency/article/001203.htm" itemtype="http://schema.org/MedicalWebPage" itemscope="">
|
||
<head>
|
||
<meta http-equiv="X-UA-Compatible" content="IE=edge,chrome=1"/>
|
||
<meta http-equiv="window-target" content="_top"/>
|
||
<meta http-equiv="Content-Type" content="text/html; charset=UTF-8"/>
|
||
<meta charset="utf-8"/>
|
||
<meta property="fb:app_id" content="1042245625821448"/>
|
||
<meta name="expires" content="Wed, 05 02 2025"/>
|
||
<meta name="ac-dictionary" content="medlineplus-ac-dictionary"/>
|
||
<link rel="shortcut icon" href="https://medlineplus.gov/images/favicon.ico" type="image/x-icon"/>
|
||
<link rel="apple-touch-icon" href="//medlineplus.gov/images/touch-icon.png"/>
|
||
<meta name="viewport" content="width=device-width, initial-scale=1"/>
|
||
<link rel="stylesheet" href="https://medlineplus.gov/css/common_new.css?04272023"/>
|
||
<!--[if IE 8]> <link rel="stylesheet" href="https://medlineplus.gov/css/ie8/common.css"><![endif]-->
|
||
<link rel="stylesheet" href="https://medlineplus.gov/uswds/css/uswds_styles.css"/>
|
||
<link rel="stylesheet" href="https://medlineplus.gov/css/ency/ency2.css?07162024"/>
|
||
<script type="text/javascript">document.querySelector("html").className = document.querySelector("html").className.replace(/nojs[\s]*/g, '');</script>
|
||
<script src="https://medlineplus.gov/uswds/js/uswds-init.min.js" type="text/javascript">
|
||
</script>
|
||
<script>(function(w,d,s,l,i){w[l]=w[l]||[];w[l].push({'gtm.start':new Date().getTime(),event:'gtm.js'});var f=d.getElementsByTagName(s)[0],j=d.createElement(s),dl=l!='dataLayer'?'&l='+l:'';j.async=true;j.src='//www.googletagmanager.com/gtm.js?id='+i+dl;f.parentNode.insertBefore(j,f);})(window,document,'script','dataLayer','GTM-MMVM77');</script>
|
||
<link rel="canonical" href="https://medlineplus.gov/ency/article/001203.htm" itemprop="url"/>
|
||
<link rel="alternative" hreflang="es" href="https://medlineplus.gov/spanish/ency/article/001203.htm"/>
|
||
<link rel="alternative" hreflang="en" href="https://medlineplus.gov/ency/article/001203.htm"/><meta property="og:title" content="Mucopolysaccharidosis type II: MedlinePlus Medical Encyclopedia"/><meta property="og:url" content="https://medlineplus.gov/ency/article/001203.htm"/><meta property="twitter:title" content="Mucopolysaccharidosis type II: MedlinePlus Medical Encyclopedia"/><meta name="twitter:card" content="summary_large_image"/><meta name="description" content="Mucopolysaccharidosis type II (MPS II) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. These chains of molecules"/><meta itemprop="description" name="description" content="Mucopolysaccharidosis type II (MPS II) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. These chains of molecules"/><meta property="og:description" content="Mucopolysaccharidosis type II (MPS II) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. These chains of molecules"/><meta property="twitter:description" content="Mucopolysaccharidosis type II (MPS II) is a rare disease in which the body is missing or does not have enough of an enzyme needed to break down long chains of sugar molecules. These chains of molecules"/><meta property="og:image" content="https://medlineplus.gov/images/share_ency_1.jpg"/><meta property="og:image" content="https://medlineplus.gov/images/share_ency_2.jpg"/><meta property="og:image" content="https://medlineplus.gov/images/share_ency_3.jpg"/><meta property="twitter:image" content="https://medlineplus.gov/images/share_ency_1.jpg"/>
|
||
<title>Mucopolysaccharidosis type II: MedlinePlus Medical Encyclopedia</title>
|
||
</head>
|
||
<body><link href="http://schema.org/Patient" itemprop="audience"/>
|
||
<!-- Google Tag Manager -->
|
||
<noscript><iframe title="googletagmanager" src="//www.googletagmanager.com/ns.html?id=GTM-MMVM77" height="0" width="0" style="display:none;visibility:hidden">
|
||
</iframe>
|
||
</noscript>
|
||
<!-- End Google Tag Manager -->
|
||
<a name="top" id="top">
|
||
</a>
|
||
<a class="hide-offscreen" href="#start">Skip navigation</a>
|
||
<section class="usa-banner" aria-label="Official website of the United States government">
|
||
<div class="usa-accordion">
|
||
<header class="usa-banner__header">
|
||
<div class="usa-banner__inner">
|
||
<div class="grid-col-auto">
|
||
<img aria-hidden="true" class="usa-banner__header-flag" src="https://medlineplus.gov/uswds/img/us_flag_small.png" alt=""/>
|
||
</div>
|
||
<div class="grid-col-fill tablet:grid-col-auto" aria-hidden="true">
|
||
<p class="usa-banner__header-text">
|
||
An official website of the United States government
|
||
</p>
|
||
<p class="usa-banner__header-action">Here’s how you know</p>
|
||
</div>
|
||
<button type="button" class="usa-accordion__button usa-banner__button" aria-expanded="false" aria-controls="gov-banner-default-default">
|
||
<span class="usa-banner__button-text">Here’s how you know</span>
|
||
</button>
|
||
</div>
|
||
</header>
|
||
<div class="usa-banner__content usa-accordion__content" id="gov-banner-default-default">
|
||
<div class="grid-row grid-gap-lg">
|
||
<div class="usa-banner__guidance tablet:grid-col-6">
|
||
<img class="usa-banner__icon usa-media-block__img" src="https://medlineplus.gov/uswds/img/icon-dot-gov.svg" role="img" alt="" aria-hidden="true"/>
|
||
<div class="usa-media-block__body">
|
||
<p>
|
||
<strong>Official websites use .gov</strong><br/>A
|
||
<strong>.gov</strong> website belongs to an official government
|
||
organization in the United States.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
<div class="usa-banner__guidance tablet:grid-col-6">
|
||
<img class="usa-banner__icon usa-media-block__img" src="https://medlineplus.gov/uswds/img/icon-https.svg" role="img" alt="" aria-hidden="true"/>
|
||
<div class="usa-media-block__body">
|
||
<p>
|
||
<strong>Secure .gov websites use HTTPS</strong><br/>A
|
||
<strong>lock</strong> (
|
||
<span class="icon-lock"><svg xmlns="http://www.w3.org/2000/svg" width="52" height="64" viewBox="0 0 52 64" class="usa-banner__lock-image" role="img" aria-labelledby="banner-lock-description-default" focusable="false">
|
||
<title id="banner-lock-title-default">Lock</title>
|
||
<desc id="banner-lock-description-default">Locked padlock icon</desc>
|
||
<path fill="#000000" fill-rule="evenodd" d="M26 0c10.493 0 19 8.507 19 19v9h3a4 4 0 0 1 4 4v28a4 4 0 0 1-4 4H4a4 4 0 0 1-4-4V32a4 4 0 0 1 4-4h3v-9C7 8.507 15.507 0 26 0zm0 8c-5.979 0-10.843 4.77-10.996 10.712L15 19v9h22v-9c0-6.075-4.925-11-11-11z">
|
||
</path>
|
||
</svg> </span>) or <strong>https://</strong> means you’ve safely connected to
|
||
the .gov website. Share sensitive information only on official,
|
||
secure websites.
|
||
</p>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</div>
|
||
</section>
|
||
<div id="mplus-wrap">
|
||
<header>
|
||
<div id="mplus-header">
|
||
<!-- Orgs
|
||
================================================== -->
|
||
<div id="mplus-orgs">
|
||
<a title="National Institutes of Health" target="_blank" class="nih-org" href="//www.nih.gov/">
|
||
<img alt="National Institutes of Health" src="https://medlineplus.gov/images/nihlogo.png" class="nihlogo"/>
|
||
</a><a target="_blank" href="https://www.nlm.nih.gov/"> National Library of Medicine </a>
|
||
</div>
|
||
<!-- Logo
|
||
================================================== -->
|
||
<div id="mplus-logo" class="years-25">
|
||
<a href="https://medlineplus.gov">
|
||
<img src="https://medlineplus.gov/images/m_logo_25.png" title="MedlinePlus Trusted Health Information for You" alt="MedlinePlus Trusted Health Information for You"/>
|
||
</a>
|
||
</div>
|
||
<!-- Nav Menu
|
||
================================================== -->
|
||
<div id="mplus-nav">
|
||
<div class="sm-live-area hide-offscreen" aria-live="polite">The navigation menu has been collapsed.</div>
|
||
<!-- Menu Button-->
|
||
<button type="submit" aria-controls="mplus-menu-list" role="button" title="Menu" class="navmenu-btn" id="sm-menu-btn" aria-pressed="false" tabindex="0">Menu<span class="icon icon-nav-menu">
|
||
</span></button><ul class="nav-list" id="mplus-menu-list">
|
||
<li><a href="https://medlineplus.gov/healthtopics.html">Health Topics</a></li>
|
||
<li><a href="https://medlineplus.gov/druginformation.html">Drugs & Supplements</a></li>
|
||
<li><a href="https://medlineplus.gov/genetics/">Genetics</a></li>
|
||
<li><a href="https://medlineplus.gov/lab-tests/">Medical Tests</a></li>
|
||
<li><a href="https://medlineplus.gov/encyclopedia.html">Medical Encyclopedia</a></li>
|
||
<li><a href="https://medlineplus.gov/about/">About MedlinePlus</a></li>
|
||
</ul><button type="submit" aria-controls="mplus-search" role="button" title="Search" class="navmenu-btn" id="sm-search-btn" aria-pressed="false" tabindex="0"><span class="hide-offscreen">Show </span>Search<span class="icon icon-nav-search">
|
||
</span></button>
|
||
<div class="top-1">
|
||
<!-- Search
|
||
================================================== -->
|
||
<form target="_self" title="Search MedlinePlus" action="//vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta" method="get" id="mplus-search">
|
||
<input type="hidden" value="medlineplus" name="v:project"/>
|
||
<input type="hidden" value="medlineplus-bundle" name="v:sources"/>
|
||
<div class="form-box text-combo">
|
||
<div class="form-area"><label for="searchtext_primary" class="hide-offscreen">Search MedlinePlus</label>
|
||
<span role="status" aria-live="polite" class="ui-helper-hidden-accessible">
|
||
</span><input type="text" aria-haspopup="true" aria-autocomplete="list" role="textbox" autocomplete="off" name="query" size="40" maxlength="400" title="Site Search input" alt="Site Search input" placeholder="Search MedlinePlus" class="form-text ui-autocomplete-input" id="searchtext_primary"/>
|
||
</div>
|
||
<div class="button-area">
|
||
<button type="submit" alt="Search MedlinePlus" title="Search MedlinePlus" class="form-btn">GO</button>
|
||
</div>
|
||
</div>
|
||
</form>
|
||
<!-- Secondary Nav
|
||
================================================== -->
|
||
<div class="secondarynav">
|
||
<ul class="nav-list">
|
||
<li><a href="https://medlineplus.gov/about/"><span>About MedlinePlus</span></a></li>
|
||
<li><a href="https://medlineplus.gov/whatsnew/"><span>What's New</span></a></li>
|
||
<li><a href="https://medlineplus.gov/sitemap.html"><span>Site Map</span></a></li>
|
||
<li><a target="_blank" href="https://support.nlm.nih.gov/knowledgebase/category/?id=CAT-01231&category=medlineplus&from=//medlineplus.gov/ency/article/001203.htm"><span>Customer Support</span></a></li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
<!-- Nav Bar
|
||
================================================== -->
|
||
<div id="mplus-nav-bar">
|
||
<ul class="nav-list">
|
||
<li><a href="https://medlineplus.gov/healthtopics.html">Health Topics</a></li><li><a href="https://medlineplus.gov/druginformation.html">Drugs & Supplements</a></li><li><a href="https://medlineplus.gov/genetics/">Genetics</a></li><li><a href="https://medlineplus.gov/lab-tests/">Medical Tests</a></li><li><a href="https://medlineplus.gov/encyclopedia.html">Medical Encyclopedia</a></li>
|
||
</ul>
|
||
</div>
|
||
<a title="Español" id="mplus-lang-toggle" href="../../spanish/ency/article/001203.htm">Español</a>
|
||
</div>
|
||
</div>
|
||
</header>
|
||
<!-- Content
|
||
================================================== -->
|
||
<div id="mplus-content">
|
||
<!-- Breadrcumbs -->
|
||
<div id="breadcrumbs"><div itemtype="http://schema.org/BreadcrumbList" itemscope="" itemprop="breadcrumb"><span class="hide-offscreen">You Are Here:</span>
|
||
<div itemscope itemprop="itemListElement" itemtype="http://schema.org/ListItem">
|
||
<a href="https://medlineplus.gov" itemprop="item"><span itemprop="name">Home</span></a>
|
||
→
|
||
<meta itemprop="position" content="1"/>
|
||
</div>
|
||
|
||
<div itemscope itemprop="itemListElement" itemtype="http://schema.org/ListItem">
|
||
<a href="https://medlineplus.gov/encyclopedia.html" itemprop="item"><span itemprop="name">Medical Encyclopedia</span></a>
|
||
→
|
||
<meta itemprop="position" content="2"/>
|
||
</div>
|
||
</div><div><span>Mucopolysaccharidosis type II</span></div></div>
|
||
<span class="page-url print-only">URL of this page: //medlineplus.gov/ency/article/001203.htm
|
||
</span>
|
||
<!-- Article -->
|
||
<article><div id="d-article"><div class="page-info"><div class="page-title"><a name="start" id="start">
|
||
</a><h1 class="with-also" itemprop="name">Mucopolysaccharidosis type II</h1>
|
||
</div><div class="page-actions">
|
||
</div>
|
||
<noscript>
|
||
<span class="js-disabled-message">To use the sharing features on this page, please enable JavaScript.</span>
|
||
</noscript></div><div class="main"><div id="ency_summary"><p>Mucopolysaccharidosis type II (MPS II) is a rare disease in which the body is missing or does not have enough of an <a test="test" href="./002353.htm">enzyme</a> needed to break down long chains of sugar molecules. These chains of molecules are called glycosaminoglycans (formerly called mucopolysaccharides). As a result, the molecules build up in different parts of the body and cause various health problems.</p><p>The condition belongs to a group of diseases called mucopolysaccharidoses (MPSs). MPS II is also known as Hunter syndrome.</p><p>There are several other types of MPSs, including:</p><ul><li><a test="test" href="./001204.htm">MPS I</a> (Hurler syndrome; Hurler-Scheie syndrome; Scheie syndrome)</li><li><a test="test" href="./001210.htm">MPS III</a> (Sanfilippo syndrome)</li><li><a test="test" href="./001206.htm">MPS IV</a> (Morquio syndrome) </li></ul></div><section><div class="section"><div class="section-header"><div class="section-title"><h2>Causes</h2></div><div class="section-button"><button type="submit" aria-controls="section-1" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div class="section-body" id="section-1"><p>MPS II is a genetic disorder. This means it can be passed down through families. The affected gene is on the X chromosome. Boys are most often affected because they inherit the X chromosome from their mothers. Their mothers do not have symptoms of the disease, but they carry a nonworking copy of the gene.</p><p>MPS II is caused by a lack of the enzyme iduronate sulfatase. Without this enzyme, chains of sugar molecules build up in various body tissues, causing damage.</p><p>The early-onset, severe form of the disease begins shortly after age 2. A late-onset, mild form causes less severe symptoms to appear later in life.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Symptoms</h2></div><div class="section-button"><button type="submit" aria-controls="section-2" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div class="section-body" id="section-2"><p>In the early-onset, severe form, symptoms include:</p><ul><li>Aggressive behavior</li><li><a test="test" href="./003256.htm">Hyperactivity</a></li><li>Mental function gets worse over time</li><li>Severe <a test="test" href="./001523.htm">intellectual disability</a></li><li>Jerky body movements </li></ul><p>In the late (mild) form, there can be mild to no mental deficiency.</p><p>In both forms, symptoms include:</p><ul><li><a test="test" href="./000433.htm">Carpal tunnel syndrome</a></li><li>Coarse features of the face</li><li><a test="test" href="./003044.htm">Deafness</a> (gets worse over time)</li><li>
|
||
Increased hair growth
|
||
</li><li>Joint stiffness</li><li><a test="test" href="./003305.htm">Large head</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Exams and Tests</h2></div><div class="section-button"><button type="submit" aria-controls="section-3" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div class="section-body" id="section-3"><p>A physical exam and tests may show:</p><ul><li>Abnormal <a test="test" href="./002291.htm">retina</a> (back of the eye)</li><li>Decreased iduronate sulfatase enzyme in blood serum or cells</li><li><a test="test" href="./003266.htm">Heart murmur</a> and leaky heart valves</li><li><a test="test" href="./003275.htm">Enlarged liver</a></li><li><a test="test" href="./003276.htm">Enlarged spleen</a></li><li><a test="test" href="./000960.htm">Hernia in the groin</a></li><li>Joint <a test="test" href="./003185.htm">contractures</a> (from joint stiffness)</li></ul><p>Tests may include:</p><ul><li>Enzyme study</li><li>Genetic testing for a change in the iduronate sulfatase gene</li><li>Urine test for heparan sulfate and dermatan sulfate </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Treatment</h2></div><div class="section-button"><button type="submit" aria-controls="section-4" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div class="section-body" id="section-4"><p>The medicine called idursulfase (Elaprase), which replaces the enzyme iduronate sulfatase may be recommended. It is given through a vein (IV, intravenously). Talk to your health care provider for more information.</p><p><a test="test" href="./003009.htm">Bone marrow transplant</a> has been tried for the early-onset form, but the results can vary.</p><p>Each health problem caused by this disease should be treated separately.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Support Groups</h2></div><div class="section-button"><button type="submit" aria-controls="section-5" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div class="section-body" id="section-5"><p>More information and support for people with MPS II and their families can be found at:</p><ul><li>National MPS Society -- <a class="extln" target="_blank" href="https://mpssociety.org/">mpssociety.org/</a></li><li>National Organization for Rare Disorders -- <a class="extln" target="_blank" href="https://rarediseases.org/rare-diseases/mucopolysaccharidosis-type-ii-2/">rarediseases.org/rare-diseases/mucopolysaccharidosis-type-ii-2/</a></li><li>NIH Genetic and Rare Diseases Information Center -- <a class="extln" target="_blank" href="https://rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii">rarediseases.info.nih.gov/diseases/6675/mucopolysaccharidosis-type-ii</a></li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Outlook (Prognosis)</h2></div><div class="section-button"><button type="submit" aria-controls="section-6" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div class="section-body" id="section-6"><p>People with the early-onset (severe) form usually live for 10 to 20 years. People with the late-onset (mild) form usually live 20 to 60 years.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Possible Complications</h2></div><div class="section-button"><button type="submit" aria-controls="section-7" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div class="section-body" id="section-7"><p>These complications may occur:</p><ul><li><a test="test" href="./000067.htm">Airway obstruction</a></li><li>Carpal tunnel syndrome</li><li>Hearing loss that gets worse over time</li><li>Loss of ability to complete daily living activities</li><li>Joint stiffness that leads to contractures</li><li>Mental function that gets worse over time </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>When to Contact a Medical Professional</h2></div><div class="section-button"><button type="submit" aria-controls="section-8" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div class="section-body" id="section-8"><p>Contact your provider if:</p><ul><li>You or your child has a group of these symptoms</li><li>You know you are a genetic carrier and are considering having children </li></ul></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Prevention</h2></div><div class="section-button"><button type="submit" aria-controls="section-9" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div class="section-body" id="section-9"><p><a test="test" href="./000510.htm">Genetic counseling</a> is recommended for couples who want to have children and who have a family history of MPS II. Prenatal testing is available. Carrier testing for female relatives of affected males is also available.</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>Alternative Names</h2></div><div class="section-button"><button type="submit" aria-controls="section-Alt" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div class="section-body" id="section-Alt"><p>MPS II; Hunter syndrome; Lysosomal storage disease - mucopolysaccharidosis type II; Iduronate 2-sulfatase deficiency; I2S deficiency</p></div></div></section><section><div class="section"><div class="section-header"><div class="section-title"><h2>References</h2></div><div class="section-button"><button type="submit" aria-controls="section-Ref" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div class="section-body" id="section-Ref"><p>Pyeritz RE. Inherited diseases of connective tissue. In: Goldman L, Schafer AI, eds. In: Goldman L, Cooney KA, eds. <em>Goldman-Cecil Medicine</em>. 27th ed. Philadelphia, PA: Elsevier; 2024:chap 239.</p><p>Spranger JW. Mucopolysaccharidoses. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. <em>Nelson Textbook of Pediatrics</em>. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 107.</p><p>Turnpenny PD, Ellard S, Cleaver R. Inborn errors of metabolism. In: Turnpenny PD, Ellard S, Cleaver R, eds. <em>Emery's Elements of Medical Genetics and Genomics</em>.16th ed. Philadelphia, PA: Elsevier; 2022:chap 18.</p></div></div></section>
|
||
<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 4/24/2023</h2></div><div class="section-button"><button type="submit" aria-controls="section-version" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div>
|
||
<div id="section-version" class="section-body"><p>Updated by: Anna C. Edens Hurst, MD, MS, Associate Professor in Medical Genetics, The University of Alabama at Birmingham, Birmingham, AL. Review provided by VeriMed Healthcare Network. Also reviewed by David C. Dugdale, MD, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team. </p>
|
||
</div></div></section><section><div class="section ency-citation"><div class="section-header"><div class="section-title ency-citation"><div id="citation-how-to"><button><span>Learn how to cite this page</span></button></div></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Related MedlinePlus Health Topics</h2></div><div class="section-button"><button type="submit" aria-controls="section-mtp" role="button" title="Expand/Collapse section"><span class="icon icon-section-action">
|
||
</span></button></div><div class="sm-live-area hide-offscreen" aria-live="polite">
|
||
</div></div><div name="Related MedlinePlus Health Topics" class="section-body" id="section-mtp"><ul class="side-nav"><li><a href="https://medlineplus.gov/carbohydratemetabolismdisorders.html">Carbohydrate Metabolism Disorders</a></li>
|
||
|
||
|
||
</ul></div></div></section></div></div></article>
|
||
</div>
|
||
<footer>
|
||
|
||
<div class="provider-box group">
|
||
<div class="urac-logo">
|
||
<a href="https://accreditnet.urac.org/directory/#/certification/HCP-2/info"><img src="https://medlineplus.gov/images/CertifiedSeal.png"/></a>
|
||
<p class="urac-logo-info">Health Content Provider<br>06/01/2025</p>
|
||
</div>
|
||
<p class="adam-info">
|
||
<a href='javascript:urac_open();'>A.D.A.M., Inc. is accredited by URAC</a>, for Health Content Provider (www.urac.org). URAC's <a href='javascript:hwsopen();'>accreditation program</a> is an independent audit to verify that A.D.A.M. follows rigorous standards of quality and accountability. A.D.A.M. is among the first to achieve this important distinction for online health information and services. Learn more about A.D.A.M.'s <a href='javascript:edpolopen();'>editorial policy, editorial process</a>, and <a href='javascript:ppopen();'>privacy policy</a>. A.D.A.M. is also a founding member of Hi-Ethics. This site complies with the HONcode standard for trustworthy health information: <a href='javascript:honc_open();'>verify here</a>.
|
||
</p>
|
||
</div>
|
||
<p class="adam-info">
|
||
The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed medical professional should be consulted for diagnosis and treatment of any and all medical conditions. Links to other sites are provided for information only – they do not constitute endorsements of those other sites. No warranty of any kind, either expressed or implied, is made as to the accuracy, reliability, timeliness, or correctness of any translations made by a third-party service of the information provided herein into any other language. © 1997-2025 A.D.A.M., a business unit of Ebix, Inc. Any duplication or distribution of the information contained herein is strictly prohibited.
|
||
</p>
|
||
<div class="adam-logo">
|
||
<a href="https://www.adam.com/about" target="_blank"><img width="49" height="10" alt="About A.D.A.M." src="https://medlineplus.gov/ency/images/ency/ftrAdamlogo.gif"/></a>
|
||
</div>
|
||
<div id="mplus-footer">
|
||
<div class="footer1">
|
||
<ul class="secondarynav">
|
||
<li><a href="https://medlineplus.gov/about/">About MedlinePlus</a></li>
|
||
<li><a href="https://medlineplus.gov/whatsnew/">What's New</a></li>
|
||
<li><a href="https://medlineplus.gov/sitemap.html">Site Map</a></li>
|
||
<li><a name="contact" target="_blank" href="https://support.nlm.nih.gov/knowledgebase/category/?id=CAT-01231&category=medlineplus&from="><span>Customer Support</span></a></li>
|
||
</ul>
|
||
<ul class="follow-footer">
|
||
<li><a href="https://medlineplus.gov/rss.html" class="follow-item">Subscribe to RSS<img src="https://medlineplus.gov/images/feed.png" class="social-media-toolkit-icon" alt="RSS" title="RSS"></a></li>
|
||
<li><span class="follow-label">Follow us</span>
|
||
<a href="https://twitter.com/medlineplus" class="follow-item" target="_blank"><img src="https://medlineplus.gov/images/i_share_twitter.png" class="follow-icon" alt="X" title="X"></a>
|
||
<a href="https://facebook.com/Mplus.gov/" class="follow-item" target="_blank"><img src="https://medlineplus.gov/images/i_share_fb.png" class="follow-icon" alt="Facebook" title="Facebook"></a>
|
||
<a href="https://www.instagram.com/mplusgov/" class="follow-item" target="_blank"><img src="https://medlineplus.gov/images/Instagram_Glyph_Gradient_RGB.png" class="follow-icon" alt="Instagram" title="Instagram"></a>
|
||
</li>
|
||
<li><a href="https://medlineplus.gov/social-media-toolkit/" class="social-media-toolkit-item">Social Media Toolkit<img src="https://medlineplus.gov/images/i_social_media_toolkit.png" class="social-media-toolkit-icon" alt="Social Media Toolkit" title="Social Media Toolkit"></a></li>
|
||
</ul>
|
||
</div>
|
||
<div class="footer2">
|
||
<ul>
|
||
<li><a href="https://www.nlm.nih.gov/web_policies.html" target="_blank">NLM Web Policies</a></li>
|
||
<li><a href="https://medlineplus.gov/about/using/usingcontent/" >Copyright</a></li>
|
||
<li><a href="//medlineplus.gov/accessibility.html">Accessibility</a></li>
|
||
<li><a href="https://medlineplus.gov/about/using/criteria/">Guidelines for Links</a></li>
|
||
<li><a href="//medlineplus.gov/plugins.html">Viewers & Players</a></li>
|
||
<li><a href="https://www.hhs.gov/vulnerability-disclosure-policy/index.html" target="_blank">HHS Vulnerability Disclosure</a></li>
|
||
<li><a href="https://medlineplus.gov/medlineplus-connect/">MedlinePlus Connect for EHRs</a></li>
|
||
<li><a href="https://medlineplus.gov/about/developers/">For Developers</a></li>
|
||
</ul>
|
||
<div class="address">
|
||
<a href="//www.nlm.nih.gov" target="_blank">National Library of Medicine</a>
|
||
<span>8600 Rockville Pike, Bethesda, MD 20894</span>
|
||
<a href="//www.hhs.gov" target="_blank">U.S. Department of Health and Human Services</a>
|
||
<a href="//www.nih.gov" target="_blank">National Institutes of Health</a>
|
||
</div>
|
||
<div class="return-top"><a href="#top" title="Return to top"><img class="return-top-icon" alt="Return to top" src="https://medlineplus.gov/images/return-top.png"></a></div>
|
||
</div>
|
||
</div>
|
||
|
||
</footer>
|
||
</div><!-- End Wrap -->
|
||
<script src="https://medlineplus.gov/jslib/jquery-3.6.0.min.js" type="text/javascript">
|
||
</script>
|
||
<script src="https://medlineplus.gov/jslib/mplus-frontend-controls.js" type="text/javascript">
|
||
</script>
|
||
<!--[if lte IE 9]>
|
||
<script src="https://medlineplus.gov/jslib/jquery.placeholder.js" type="text/javascript"></script>
|
||
<![endif]-->
|
||
<script src="https://medlineplus.gov/jslib/mplus-share.js?id=1112022" type="text/javascript">
|
||
</script>
|
||
<script src="https://medlineplus.gov/jslib/control.js" type="text/javascript">
|
||
</script>
|
||
<script src="https://medlineplus.gov/uswds/js/uswds.min.js" type="text/javascript">
|
||
</script>
|
||
<script src="https://medlineplus.gov/jslib/ency/ency.js" type="text/javascript">
|
||
</script>
|
||
</body>
|
||
</html> |