296 lines
No EOL
33 KiB
HTML
296 lines
No EOL
33 KiB
HTML
<!DOCTYPE html>
|
||
<html lang="en" id="article" class="nojs us" data-root="//medlineplus.gov" itemid="https://medlineplus.gov/ency/article/000372.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/000372.htm" itemprop="url"/>
|
||
<link rel="alternative" hreflang="es" href="https://medlineplus.gov/spanish/ency/article/000372.htm"/>
|
||
<link rel="alternative" hreflang="en" href="https://medlineplus.gov/ency/article/000372.htm"/><meta property="og:title" content="Hereditary urea cycle abnormality: MedlinePlus Medical Encyclopedia"/><meta property="og:url" content="https://medlineplus.gov/ency/article/000372.htm"/><meta property="twitter:title" content="Hereditary urea cycle abnormality: MedlinePlus Medical Encyclopedia"/><meta name="twitter:card" content="summary_large_image"/><meta name="description" content="Hereditary urea cycle abnormalities are inherited conditions. They can cause problems with the removal of waste from the body in the urine."/><meta itemprop="description" name="description" content="Hereditary urea cycle abnormalities are inherited conditions. They can cause problems with the removal of waste from the body in the urine."/><meta property="og:description" content="Hereditary urea cycle abnormalities are inherited conditions. They can cause problems with the removal of waste from the body in the urine."/><meta property="twitter:description" content="Hereditary urea cycle abnormalities are inherited conditions. They can cause problems with the removal of waste from the body in the urine."/><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>Hereditary urea cycle abnormality: 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/000372.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/000372.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>Hereditary urea cycle abnormality</span></div></div>
|
||
<span class="page-url print-only">URL of this page: //medlineplus.gov/ency/article/000372.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">Hereditary urea cycle abnormality</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>Hereditary urea cycle abnormalities are inherited conditions. They can cause problems with the removal of waste from the body in the urine.</p></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>The urea cycle is a process in which waste (ammonia) is removed from the body. When you eat proteins, the body breaks them down into amino acids. Ammonia is produced from leftover amino acids, and it must be removed from the body.</p><p>The liver produces several chemicals (enzymes) that change ammonia into a form called urea, which the body can remove in the urine. If this process is disturbed, ammonia levels begin to rise.</p><p>Several inherited conditions can cause problems with this waste-removal process. People with a urea cycle disorder have a defective gene that makes the enzymes needed to break down ammonia in the body.</p><p>These diseases include:</p><ul><li>Argininosuccinic aciduria</li><li>Arginase deficiency</li><li>Carbamyl phosphate synthetase (CPS) deficiency</li><li>Citrullinemia</li><li>N-acetylglutamate synthetase (NAGS) deficiency</li><li>Ornithine transcarbamylase (OTC) deficiency </li></ul><p>As a group, these disorders occur in 1 in 30,000 newborns. OTC deficiency is the most common of these disorders.</p><p>Because this is an X-linked condition, boys are more often affected by OTC deficiency than girls. Girls are rarely affected with OTC. Those girls who are affected have milder symptoms and can develop the disease later in life. Because they are autosomal recessive conditions, the other conditions that cause this problem affect both girls and boys equally.</p><p>To get the other types of disorders, you need to receive a non-working copy of the gene from both parents. Sometimes parents don't know they carry a non-working copy of the gene until their child gets the disorder.</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>Typically, an affected baby begins nursing well and seems normal. However, over time the baby develops poor feeding, vomiting, and sleepiness, which may be so deep that the baby is difficult to awaken. This most often occurs within the first week after birth.</p><p>Symptoms include:</p><ul><li><a test="test" href="./003205.htm">Confusion</a></li><li>Decreased food intake</li><li>Dislike of foods that contain protein </li><li>Increased sleepiness, difficulty waking up</li><li>Nausea, vomiting </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>The health care provider will often diagnose these disorders when the child is still an infant.</p><p>Signs may include:</p><ul><li>Abnormal amino acids in blood and urine</li><li>Abnormal level of orotic acid in blood or urine</li><li>High blood ammonia level</li><li>Normal level of acid in blood </li></ul><p>Tests may include:</p><ul><li><a test="test" href="./003855.htm">Arterial blood gas</a></li><li><a test="test" href="./003506.htm">Blood ammonia</a></li><li>Blood glucose</li><li><a test="test" href="./003361.htm">Plasma amino acids</a></li><li>Urine organic acids</li><li>Genetic tests</li><li><a test="test" href="./003895.htm">Liver biopsy</a></li><li><a test="test" href="./003335.htm">MRI</a> or <a test="test" href="./003330.htm">CT scan</a></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>Limiting protein in the diet can help treat these disorders by reducing the amount of nitrogen waste the body produces. (The waste is in the form of ammonia.) Special low-protein infant and toddler formulas are available.</p><p>It is important that a provider guides the baby's protein intake. The provider can balance the amount of protein the baby gets so that it is enough for growth, but not enough to cause symptoms.</p><p>It is very important for people with these disorders to avoid fasting.</p><p>People with urea cycle abnormalities must also be very careful under times of physical stress, such as when they have infections. Stress, such as a fever, can cause the body to break down its own proteins. These extra proteins can make it hard for the abnormal urea cycle to remove the byproducts.</p><p>Develop a plan with your provider for when you are sick to avoid all protein, drink high carbohydrate drinks, and get enough fluids.</p><p>Most people with urea cycle disorders will need to stay in the hospital at some point. During such times, they may be treated with medicines that help the body remove nitrogen-containing wastes. Dialysis may help rid the body of excess ammonia during extreme illness. Some people may need a liver transplant.</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>RareConnect: Urea Cycle Disorder Official Community -- <a class="extln" target="_blank" href="https://www.rareconnect.org/en/community/urea-cycle-disorders">www.rareconnect.org/en/community/urea-cycle-disorders</a></p></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>How well people do depends on:</p><ul><li><div>Which urea cycle abnormality they have</div></li><li><div>How severe it is</div></li><li><div>How early it is discovered</div></li><li><div>How closely they follow a protein-restricted diet</div></li></ul><p>Babies diagnosed in the first week of life and put on a protein-restricted diet right away may do well.</p><p>Sticking to the diet can lead to normal adult intelligence. Repeatedly not following the diet or having stress-induced symptoms can lead to brain swelling and brain damage.</p><p>Major stresses, such as surgery or accidents, can be complicated for people with this condition. Extreme care is needed to avoid problems during such periods.</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>Complications can include:</p><ul><li>Coma</li><li>Confusion and eventually disorientation</li><li>Death</li><li>Increase in blood ammonia level</li><li>Swelling of the brain </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>Prenatal testing is available. Genetic testing before an embryo is implanted may be available for those using <a test="test" href="./007279.htm">in vitro</a> if the specific genetic cause is known.</p><p>A dietician is important to help plan and update a protein-restricted diet as the child grows.</p></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>As with most inherited diseases, there is no way to prevent these disorders from developing after birth.</p><p>Teamwork between parents, the medical team, and the affected child to follow the prescribed diet can help prevent severe illness.</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>Abnormality of the urea cycle - hereditary; Urea cycle - hereditary abnormality</p></div></div></section><section><div class="section sec-mb"><div class="section-header"><div class="section-title"><h2>Images</h2></div><div class="section-button"><button type="submit" aria-controls="section-tnails" 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="Images" class="section-body" id="section-tnails"><ul class="img-grid group">
|
||
<li><img src="//medlineplus.gov/ency/images/ency/tnails/17167t.jpg" alt="Urea cycle" title="Urea cycle" class="side-img"/><a href="../imagepages/17167.htm">Urea cycle</a></li>
|
||
</ul></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>Kliegman RM, St Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM. Defects in metabolism of amino acids. 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 103.</p><p>Konczal LL, Zinn AB. Inborn errors of metabolism. In: Martin RJ, Fanaroff AA, Walsh MC, eds. <em>Fanaroff and Martin's Neonatal-Perinatal Medicine. </em>11th ed. Philadelphia, PA: Elsevier; 2020:chap 90.</p><p>Nagamani SCS, Lichter-Konecki U. Inborn errors of urea synthesis. In: Swaiman KF, Ashwal S, Ferriero DM, et al, eds. <em>Swaiman's Pediatric Neurology: Principles and Practice.</em> 6th ed. Philadelphia, PA: Elsevier; 2017:chap 38.</p></div></div></section>
|
||
<section><div class="section"><div class="section-header"><div class="section-title"><h2>Review Date 12/31/2023</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/metabolicdisorders.html">Metabolic 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> |