3374 lines
276 KiB
Text
3374 lines
276 KiB
Text
|
|
|
|
|
|
|
|
|
|
<!DOCTYPE html>
|
|
<html xmlns="http://www.w3.org/1999/xhtml" lang="en-us" xml:lang="en-us" >
|
|
|
|
<head>
|
|
|
|
|
|
|
|
<!--
|
|
################################# CRAWLER WARNING #################################
|
|
|
|
- The terms of service and the robots.txt file disallows crawling of this site,
|
|
please see https://omim.org/help/agreement for more information.
|
|
|
|
- A number of data files are available for download at https://omim.org/downloads.
|
|
|
|
- We have an API which you can learn about at https://omim.org/help/api and register
|
|
for at https://omim.org/api, this provides access to the data in JSON & XML formats.
|
|
|
|
- You should feel free to contact us at https://omim.org/contact to figure out the best
|
|
approach to getting the data you need for your work.
|
|
|
|
- WE WILL AUTOMATICALLY BLOCK YOUR IP ADDRESS IF YOU CRAWL THIS SITE.
|
|
|
|
- WE WILL ALSO AUTOMATICALLY BLOCK SUB-DOMAINS AND ADDRESS RANGES IMPLICATED IN
|
|
DISTRIBUTED CRAWLS OF THIS SITE.
|
|
|
|
################################# CRAWLER WARNING #################################
|
|
-->
|
|
|
|
|
|
|
|
<meta http-equiv="content-type" content="text/html; charset=utf-8" />
|
|
<meta http-equiv="cache-control" content="no-cache" />
|
|
<meta http-equiv="pragma" content="no-cache" />
|
|
<meta name="robots" content="index, follow" />
|
|
|
|
|
|
<meta name="viewport" content="width=device-width, initial-scale=1" />
|
|
<meta http-equiv="X-UA-Compatible" content="IE=edge" />
|
|
|
|
|
|
<meta name="title" content="Online Mendelian Inheritance in Man (OMIM)" />
|
|
<meta name="description" content="Online Mendelian Inheritance in Man (OMIM) is a comprehensive, authoritative
|
|
compendium of human genes and genetic phenotypes that is freely available and updated daily. The full-text,
|
|
referenced overviews in OMIM contain information on all known mendelian disorders and over 15,000 genes.
|
|
OMIM focuses on the relationship between phenotype and genotype. It is updated daily, and the entries
|
|
contain copious links to other genetics resources." />
|
|
<meta name="keywords" content="Mendelian Inheritance in Man, OMIM, Mendelian diseases, Mendelian disorders, genetic diseases,
|
|
genetic disorders, genetic disorders in humans, genetic phenotypes, phenotype and genotype, disease models, alleles,
|
|
genes, dna, genetics, dna testing, gene testing, clinical synopsis, medical genetics" />
|
|
<meta name="theme-color" content="#333333" />
|
|
<link rel="icon" href="/static/omim/favicon.png" />
|
|
<link rel="apple-touch-icon" href="/static/omim/favicon.png" />
|
|
<link rel="manifest" href="/static/omim/manifest.json" />
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script id='mimBrowserCapability'>
|
|
function _0x5069(){const _0x4b1387=['91sZIeLc','mimBrowserCapability','15627zshTnf','710004yxXedd','34LxqNYj','match','disconnect','1755955rnzTod','observe','1206216ZRfBWB','575728fqgsYy','webdriver','documentElement','close','open','3086704utbakv','7984143PpiTpt'];_0x5069=function(){return _0x4b1387;};return _0x5069();}function _0xe429(_0x472ead,_0x43eb70){const _0x506916=_0x5069();return _0xe429=function(_0xe42949,_0x1aaefc){_0xe42949=_0xe42949-0x1a9;let _0xe6add8=_0x506916[_0xe42949];return _0xe6add8;},_0xe429(_0x472ead,_0x43eb70);}(function(_0x337daa,_0x401915){const _0x293f03=_0xe429,_0x5811dd=_0x337daa();while(!![]){try{const _0x3dc3a3=parseInt(_0x293f03(0x1b4))/0x1*(-parseInt(_0x293f03(0x1b6))/0x2)+parseInt(_0x293f03(0x1b5))/0x3+parseInt(_0x293f03(0x1b0))/0x4+-parseInt(_0x293f03(0x1b9))/0x5+parseInt(_0x293f03(0x1aa))/0x6+-parseInt(_0x293f03(0x1b2))/0x7*(parseInt(_0x293f03(0x1ab))/0x8)+parseInt(_0x293f03(0x1b1))/0x9;if(_0x3dc3a3===_0x401915)break;else _0x5811dd['push'](_0x5811dd['shift']());}catch(_0x4dd27b){_0x5811dd['push'](_0x5811dd['shift']());}}}(_0x5069,0x84d63),(function(){const _0x9e4c5f=_0xe429,_0x363a26=new MutationObserver(function(){const _0x458b09=_0xe429;if(document!==null){let _0x2f0621=![];navigator[_0x458b09(0x1ac)]!==![]&&(_0x2f0621=!![]);for(const _0x427dda in window){_0x427dda[_0x458b09(0x1b7)](/cdc_[a-z0-9]/ig)&&(_0x2f0621=!![]);}_0x2f0621===!![]?document[_0x458b09(0x1af)]()[_0x458b09(0x1ae)]():(_0x363a26[_0x458b09(0x1b8)](),document['getElementById'](_0x458b09(0x1b3))['remove']());}});_0x363a26[_0x9e4c5f(0x1a9)](document[_0x9e4c5f(0x1ad)],{'childList':!![]});}()));
|
|
</script>
|
|
|
|
|
|
|
|
<link rel='preconnect' href='https://cdn.jsdelivr.net' />
|
|
<link rel='preconnect' href='https://cdnjs.cloudflare.com' />
|
|
|
|
<link rel="preconnect" href="https://www.googletagmanager.com" />
|
|
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery@3.7.1/dist/jquery.min.js" integrity="sha256-/JqT3SQfawRcv/BIHPThkBvs0OEvtFFmqPF/lYI/Cxo=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-migrate@3.5.2/dist/jquery-migrate.js" integrity="sha256-ThFcNr/v1xKVt5cmolJIauUHvtXFOwwqiTP7IbgP8EU=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/js/bootstrap.min.js" integrity="sha256-nuL8/2cJ5NDSSwnKD8VqreErSWHtnEP9E7AySL+1ev4=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap.min.css" integrity="sha256-bZLfwXAP04zRMK2BjiO8iu9pf4FbLqX6zitd+tIvLhE=" crossorigin="anonymous">
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/bootstrap@3.4.1/dist/css/bootstrap-theme.min.css" integrity="sha256-8uHMIn1ru0GS5KO+zf7Zccf8Uw12IA5DrdEcmMuWLFM=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/moment@2.29.4/min/moment.min.js" integrity="sha256-80OqMZoXo/w3LuatWvSCub9qKYyyJlK0qnUCYEghBx8=" crossorigin="anonymous"></script>
|
|
<script src="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/js/bootstrap-datetimepicker.min.js" integrity="sha256-dYxUtecag9x4IaB2vUNM34sEso6rWTgEche5J6ahwEQ=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/eonasdan-bootstrap-datetimepicker@4.17.49/build/css/bootstrap-datetimepicker.min.css" integrity="sha256-9FNpuXEYWYfrusiXLO73oIURKAOVzqzkn69cVqgKMRY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.js" integrity="sha256-a+PRq3NbyK3G08Boio9X6+yFiHpTSIrbE7uzZvqmDac=" crossorigin="anonymous"></script>
|
|
<link rel="stylesheet" href="https://cdn.jsdelivr.net/npm/qtip2@3.0.3/dist/jquery.qtip.min.css" integrity="sha256-JvdVmxv7Q0LsN1EJo2zc1rACwzatOzkyx11YI4aP9PY=" crossorigin="anonymous">
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/devbridge-autocomplete@1.4.11/dist/jquery.autocomplete.min.js" integrity="sha256-BNpu3uLkB3SwY3a2H3Ue7WU69QFdSRlJVBrDTnVKjiA=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/jquery-validation@1.21.0/dist/jquery.validate.min.js" integrity="sha256-umbTaFxP31Fv6O1itpLS/3+v5fOAWDLOUzlmvOGaKV4=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdn.jsdelivr.net/npm/js-cookie@3.0.5/dist/js.cookie.min.js" integrity="sha256-WCzAhd2P6gRJF9Hv3oOOd+hFJi/QJbv+Azn4CGB8gfY=" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
<script src="https://cdnjs.cloudflare.com/ajax/libs/ScrollToFixed/1.0.8/jquery-scrolltofixed-min.js" integrity="sha512-ohXbv1eFvjIHMXG/jY057oHdBZ/jhthP1U3jES/nYyFdc9g6xBpjDjKIacGoPG6hY//xVQeqpWx8tNjexXWdqA==" crossorigin="anonymous"></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script async src="https://www.googletagmanager.com/gtag/js?id=G-HMPSQC23JJ"></script>
|
|
<script>
|
|
window.dataLayer = window.dataLayer || [];
|
|
function gtag(){window.dataLayer.push(arguments);}
|
|
gtag("js", new Date());
|
|
gtag("config", "G-HMPSQC23JJ");
|
|
</script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<script src="/static/omim/js/site.js?version=Zmk5Y1" integrity="sha256-fi9cXywxCO5p0mU1OSWcMp0DTQB4s8ncFR8j+IO840s="></script>
|
|
|
|
|
|
<link rel="stylesheet" href="/static/omim/css/site.css?version=VGE4MF" integrity="sha256-Ta80Qpm3w1S8kmnN0ornbsZxdfA32R42R4ncsbos0YU=" />
|
|
|
|
|
|
<script src="/static/omim/js/entry/entry.js?version=anMvRU" integrity="sha256-js/EBOBZzGDctUqr1VhnNPzEiA7w3HM5JbFmOj2CW84="></script>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimBootstrapDeviceSize">
|
|
<div class="visible-xs" data-mim-bootstrap-device-size="xs"></div>
|
|
<div class="visible-sm" data-mim-bootstrap-device-size="sm"></div>
|
|
<div class="visible-md" data-mim-bootstrap-device-size="md"></div>
|
|
<div class="visible-lg" data-mim-bootstrap-device-size="lg"></div>
|
|
</div>
|
|
|
|
|
|
|
|
<title>
|
|
|
|
Entry
|
|
|
|
- #255110 - CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
|
|
|
|
|
|
- OMIM
|
|
|
|
</title>
|
|
|
|
|
|
|
|
</head>
|
|
|
|
<body>
|
|
<div id="mimBody">
|
|
|
|
|
|
|
|
<div id="mimHeader" class="hidden-print">
|
|
|
|
|
|
|
|
<nav class="navbar navbar-inverse navbar-fixed-top mim-navbar-background">
|
|
<div class="container-fluid">
|
|
|
|
<!-- Brand and toggle get grouped for better mobile display -->
|
|
<div class="navbar-header">
|
|
<button type="button" class="navbar-toggle collapsed" data-toggle="collapse" data-target="#mimNavbarCollapse" aria-expanded="false">
|
|
<span class="sr-only"> Toggle navigation </span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
<span class="icon-bar"></span>
|
|
</button>
|
|
<a class="navbar-brand" href="/"><img alt="OMIM" src="/static/omim/icons/OMIM_davinciman.001.png" height="30" width="30"></a>
|
|
</div>
|
|
|
|
<div id="mimNavbarCollapse" class="collapse navbar-collapse">
|
|
|
|
<ul class="nav navbar-nav">
|
|
|
|
|
|
<li>
|
|
<a href="/help/about"><span class="mim-navbar-menu-font"> About </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimStatisticsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Statistics <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="statisticsDropdown">
|
|
<li>
|
|
<a href="/statistics/update"> Update List </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/entry"> Entry Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/geneMap"> Phenotype-Gene Statistics </a>
|
|
</li>
|
|
<li>
|
|
<a href="/statistics/paceGraph"> Pace of Gene Discovery Graph </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDownloadsDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Downloads <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="downloadsDropdown">
|
|
|
|
<li>
|
|
<a href="/downloads/"> Register for Downloads </a>
|
|
</li>
|
|
<li>
|
|
<a href="/api"> Register for API Access </a>
|
|
</li>
|
|
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="/contact?mimNumber=255110"><span class="mim-navbar-menu-font"> Contact Us </span></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li>
|
|
|
|
<a href="/mimmatch/">
|
|
|
|
<span class="mim-navbar-menu-font">
|
|
<span class="mim-tip-bottom" qtip_title="<strong>MIMmatch</strong>" qtip_text="MIMmatch is a way to follow OMIM entries that interest you and to find other researchers who may share interest in the same entries. <br /><br />A bonus to all MIMmatch users is the option to sign up for updates on new gene-phenotype relationships.">
|
|
MIMmatch
|
|
</span>
|
|
</span>
|
|
</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimDonateDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Donate <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="donateDropdown">
|
|
<li>
|
|
<a href="https://secure.jhu.edu/form/OMIM" target="_blank" onclick="gtag('event', 'mim_donation', {'destination': 'secure.jhu.edu'})"> Donate! </a>
|
|
</li>
|
|
<li>
|
|
<a href="/donors"> Donors </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li class="dropdown">
|
|
<a href="#" id="mimHelpDropdown" class="dropdown-toggle" data-toggle="dropdown" role="button" aria-haspopup="true" aria-expanded="false"><span class="mim-navbar-menu-font"> Help <span class="caret"></span></span></a>
|
|
<ul class="dropdown-menu" role="menu" aria-labelledby="helpDropdown">
|
|
<li>
|
|
<a href="/help/faq"> Frequently Asked Questions (FAQs) </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/search"> Search Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/linking"> Linking Help </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/api"> API Help </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/external"> External Links </a>
|
|
</li>
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/help/agreement"> Use Agreement </a>
|
|
</li>
|
|
<li>
|
|
<a href="/help/copyright"> Copyright </a>
|
|
</li>
|
|
</ul>
|
|
</li>
|
|
|
|
|
|
|
|
<li>
|
|
<a href="#" id="mimShowTips" class="mim-tip-hint" title="Click to reveal all tips on the page. You can also hover over individual elements to reveal the tip."><span class="mim-navbar-menu-font"><span class="glyphicon glyphicon-question-sign" aria-hidden="true"></span></span></a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimSearch" class="hidden-print">
|
|
|
|
<div class="container">
|
|
|
|
<form method="get" action="/search" id="mimEntrySearchForm" name="entrySearchForm" class="form-horizontal">
|
|
|
|
<input type="hidden" id="mimSearchIndex" name="index" value="entry" />
|
|
<input type="hidden" id="mimSearchStart" name="start" value="1" />
|
|
<input type="hidden" id="mimSearchLimit" name="limit" value="10" />
|
|
<input type="hidden" id="mimSearchSort" name="sort" value="score desc, prefix_sort desc" />
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-8 col-md-8 col-sm-8 col-xs-8">
|
|
<div class="form-group">
|
|
<div class="input-group">
|
|
<input type="search" id="mimEntrySearch" name="search" class="form-control" value="" placeholder="Search OMIM..." maxlength="5000" autocomplete="off" autocorrect="off" autocapitalize="none" spellcheck="false" autofocus />
|
|
<div class="input-group-btn">
|
|
<button type="submit" id="mimEntrySearchSubmit" class="btn btn-default" style="width: 5em;"><span class="glyphicon glyphicon-search"></span></button>
|
|
<button type="button" class="btn btn-default dropdown-toggle" data-toggle="dropdown"> Options <span class="caret"></span></button>
|
|
<ul class="dropdown-menu dropdown-menu-right">
|
|
<li class="dropdown-header">
|
|
Advanced Search
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/entry"> OMIM </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/clinicalSynopsis"> Clinical Synopses </a>
|
|
</li>
|
|
<li style="margin-left: 0.5em;">
|
|
<a href="/search/advanced/geneMap"> Gene Map </a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="separator" class="divider"></li>
|
|
<li>
|
|
<a href="/history"> Search History </a>
|
|
</li>
|
|
|
|
|
|
</ul>
|
|
</div>
|
|
</div>
|
|
<div class="autocomplete" id="mimEntrySearchAutocomplete"></div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="col-lg-4 col-md-4 col-sm-4 col-xs-4">
|
|
<span class="small">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</form>
|
|
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
<!-- <div id="mimSearch"> -->
|
|
|
|
|
|
|
|
|
|
<div id="mimContent">
|
|
|
|
|
|
|
|
<div class="container hidden-print">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
<div class="col-lg-12 col-md-12 col-sm-12 col-xs-12">
|
|
|
|
<div id="mimAlertBanner">
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-md-2 col-sm-2 hidden-sm hidden-xs">
|
|
|
|
<div id="mimFloatingTocMenu" class="small" role="navigation">
|
|
|
|
<p>
|
|
<span class="h4">#255110</span>
|
|
<br />
|
|
<strong>Table of Contents</strong>
|
|
</p>
|
|
|
|
<nav>
|
|
<ul id="mimFloatingTocMenuItems" class="nav nav-pills nav-stacked mim-floating-toc-padding">
|
|
|
|
<li role="presentation">
|
|
<a href="#title"><strong>Title</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#phenotypeMap"><strong>Phenotype-Gene Relationships</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="/clinicalSynopsis/255110"><strong>Clinical Synopsis</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#text"><strong>Text</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#description">Description</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalFeatures">Clinical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#diagnosis">Diagnosis</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#biochemicalFeatures">Biochemical Features</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#clinicalManagement">Clinical Management</a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation" style="margin-left: 1em">
|
|
<a href="#molecularGenetics">Molecular Genetics</a>
|
|
</li>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#seeAlso"><strong>See Also</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#references"><strong>References</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#contributors"><strong>Contributors</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#creationDate"><strong>Creation Date</strong></a>
|
|
</li>
|
|
|
|
|
|
|
|
<li role="presentation">
|
|
<a href="#editHistory"><strong>Edit History</strong></a>
|
|
</li>
|
|
|
|
</ul>
|
|
|
|
</nav>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-2 col-lg-push-8 col-md-2 col-md-push-8 col-sm-2 col-sm-push-8 col-xs-12">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimFloatingLinksMenu">
|
|
|
|
<div class="panel panel-primary" style="margin-bottom: 0px; border-radius: 4px 4px 0px 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimExternalLinks">
|
|
<h4 class="panel-title">
|
|
<a href="#mimExternalLinksFold" id="mimExternalLinksToggle" class="mimTriangleToggle" role="button" data-toggle="collapse">
|
|
<div style="display: table-row">
|
|
<div id="mimExternalLinksToggleTriangle" class="small" style="color: white; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">External Links</div>
|
|
</div>
|
|
</a>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
|
|
<div id="mimExternalLinksFold" class="collapse in">
|
|
|
|
<div class="panel-group" id="mimExternalLinksAccordion" role="tablist" aria-multiselectable="true">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimClinicalResources">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimClinicalResourcesLinksFold" id="mimClinicalResourcesLinksToggle" class=" mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimClinicalResourcesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">▼</div>
|
|
|
|
<div style="display: table-cell;">Clinical Resources</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimClinicalResourcesLinksFold" class="panel-collapse collapse in mimLinksFold" role="tabpanel" aria-labelledby="clinicalResources">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://clinicaltrials.gov/search?cond=CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED" class="mim-tip-hint" title="A registry of federally and privately supported clinical trials conducted in the United States and around the world." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Clinical Trials', 'domain': 'clinicaltrials.gov'})">Clinical Trials</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="#mimEuroGentestFold" id="mimEuroGentestToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="A list of European laboratories that offer genetic testing."><span id="mimEuroGentestToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>EuroGentest</div>
|
|
<div id="mimEuroGentestFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=901&Typ=Pat" title="Carnitine palmitoyltransferase II deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Carnitine palmitoyltransfe… </a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/ClinicalLabs_Search_Simple.php?lng=EN&LnkId=19099&Typ=Pat" title="Carnitine palmitoyl transferase II deficiency, myopathic form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'EuroGentest', 'domain': 'orpha.net'})">Carnitine palmitoyl transf… </a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/books/NBK1253/" class="mim-tip-hint" title="Expert-authored, peer-reviewed descriptions of inherited disorders including the uses of genetic testing in diagnosis, management, and genetic counseling." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Gene Reviews', 'domain': 'ncbi.nlm.nih.gov'})">Gene Reviews</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.diseaseinfosearch.org/x/7905" class="mim-tip-hint" title="Network of disease-specific advocacy organizations, universities, private companies, government agencies, and public policy organizations." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'Genetic Alliance', 'domain': 'diseaseinfosearch.org'})">Genetic Alliance</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="https://www.ncbi.nlm.nih.gov/gtr/all/tests/?term=255110[mim]" class="mim-tip-hint" title="Genetic Testing Registry." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'GTR', 'domain': 'ncbi.nlm.nih.gov'})">GTR</a></div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div><a href="#mimOrphanetFold" id="mimOrphanetToggle" data-toggle="collapse" class="mim-tip-hint mimTriangleToggle" title="European reference portal for information on rare diseases and orphan drugs."><span id="mimOrphanetToggleTriangle" class="small" style="margin-left: -0.8em;">►</span>Orphanet</div>
|
|
<div id="mimOrphanetFold" class="collapse">
|
|
<div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=157" title="Carnitine palmitoyltransferase II deficiency" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Carnitine palmitoyltransfe…</a></div><div style="margin-left: 0.5em;"><a href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=228302" title="Carnitine palmitoyl transferase II deficiency, myopathic form" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'OrphaNet', 'domain': 'orpha.net'})">Carnitine palmitoyl transf…</a></div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="panel panel-default" style="margin-top: 0px; border-radius: 0px">
|
|
<div class="panel-heading mim-panel-heading" role="tab" id="mimCellLines">
|
|
<span class="panel-title">
|
|
<span class="small">
|
|
<a href="#mimCellLinesLinksFold" id="mimCellLinesLinksToggle" class="collapsed mimSingletonTriangleToggle" role="button" data-toggle="collapse" data-parent="#mimExternalLinksAccordion">
|
|
<div style="display: table-row">
|
|
<div id="mimCellLinesLinksToggleTriangle" class="small mimSingletonTriangle" style="color: #337CB5; display: table-cell;">►</div>
|
|
|
|
<div style="display: table-cell;">Cell Lines</div>
|
|
</div>
|
|
</a>
|
|
</span>
|
|
</span>
|
|
</div>
|
|
<div id="mimCellLinesLinksFold" class="panel-collapse collapse mimLinksFold" role="tabpanel">
|
|
<div class="panel-body small mim-panel-body">
|
|
|
|
|
|
|
|
<div><a href="https://catalog.coriell.org/Search?q=OmimNum:255110" class="definition" title="Coriell Cell Repositories; cell cultures and DNA derived from cell cultures." target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'CCR', 'domain': 'ccr.coriell.org'})">Coriell</a></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
<span>
|
|
<span class="mim-tip-bottom" qtip_title="<strong>Looking for this gene or this phenotype in other resources?</strong>" qtip_text="Select a related resource from the dropdown menu and click for a targeted link to information directly relevant.">
|
|
|
|
</span>
|
|
</span>
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<div class="col-lg-8 col-lg-pull-2 col-md-8 col-md-pull-2 col-sm-8 col-sm-pull-2 col-xs-12">
|
|
|
|
<div>
|
|
|
|
<a id="title" class="mim-anchor"></a>
|
|
|
|
<div>
|
|
<a id="number" class="mim-anchor"></a>
|
|
<div class="text-right">
|
|
|
|
|
|
|
|
<a href="#" class="mim-tip-icd" qtip_title="<strong>ICD+</strong>" qtip_text="
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 157, 228302<br />
|
|
|
|
|
|
<strong>DO:</strong> 0060235<br />
|
|
|
|
|
|
">ICD+</a>
|
|
|
|
</div>
|
|
<div>
|
|
<span class="h3">
|
|
<span class="mim-font mim-tip-hint" title="Phenotype description, molecular basis known">
|
|
<span class="text-danger"><strong>#</strong></span>
|
|
255110
|
|
</span>
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
<div>
|
|
<a id="preferredTitle" class="mim-anchor"></a>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<a id="alternativeTitles" class="mim-anchor"></a>
|
|
<div>
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC<br />
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET<br />
|
|
CPT II DEFICIENCY, MYOPATHIC<br />
|
|
CPT2 DEFICIENCY, LATE-ONSET
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="phenotypeMap" class="mim-anchor"></a>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed table-hover small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/geneMap/1/626?start=-3&limit=10&highlight=626">
|
|
1p32.3
|
|
</a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CPT II deficiency, myopathic, stress-induced
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/255110"> 255110 </a>
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="Autosomal dominant">AD</abbr>, <abbr class="mim-tip-hint" title="Autosomal recessive">AR</abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
|
|
<abbr class="mim-tip-hint" title="3 - The molecular basis of the disorder is known"> 3 </abbr>
|
|
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CPT2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
<a href="/entry/600650"> 600650 </a>
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
|
|
|
|
<div class="btn-group ">
|
|
<a href="/clinicalSynopsis/255110" class="btn btn-warning" role="button"> Clinical Synopsis </a>
|
|
<button type="button" id="mimPhenotypicSeriesToggle" class="btn btn-warning dropdown-toggle mimSingletonFoldToggle" data-toggle="collapse" href="#mimClinicalSynopsisFold" onclick="ga('send', 'event', 'Unfurl', 'ClinicalSynopsis', 'omim.org')">
|
|
<span class="caret"></span>
|
|
<span class="sr-only">Toggle Dropdown</span>
|
|
</button>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div class="btn-group">
|
|
<button type="button" class="btn btn-success dropdown-toggle" data-toggle="dropdown" aria-haspopup="true" aria-expanded="false">
|
|
PheneGene Graphics <span class="caret"></span>
|
|
</button>
|
|
<ul class="dropdown-menu" style="width: 17em;">
|
|
<li><a href="/graph/linear/255110" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Linear'})"> Linear </a></li>
|
|
<li><a href="/graph/radial/255110" target="_blank" onclick="gtag('event', 'mim_graph', {'destination': 'Radial'})"> Radial </a></li>
|
|
</ul>
|
|
</div>
|
|
<span class="glyphicon glyphicon-question-sign mim-tip-hint" title="OMIM PheneGene graphics depict relationships between phenotypes, groups of related phenotypes (Phenotypic Series), and genes.<br /><a href='/static/omim/pdf/OMIM_Graphics.pdf' target='_blank'>A quick reference overview and guide (PDF)</a>"></span>
|
|
|
|
|
|
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
|
|
<div id="mimClinicalSynopsisFold" class="well well-sm collapse mimSingletonToggleFold">
|
|
<div class="small" style="margin: 5px">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> INHERITANCE </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Autosomal recessive <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/258211005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">258211005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0441748&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0441748</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000007" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000007</a>]</span><br /> -
|
|
Autosomal dominant <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/263681008" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">263681008</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/771269000" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">771269000</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0443147&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0443147</a>, <a href="https://bioportal.bioontology.org/search?q=C1867440&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1867440</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000006</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> GENITOURINARY </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<em> Kidneys </em>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
<span class="mim-font">
|
|
|
|
- Renal failure <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/42399005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">42399005</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/N19" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">N19</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/586" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">586</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035078&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035078</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0000083" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0000083</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MUSCLE, SOFT TISSUES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Muscle weakness following prolonged exercise <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C3806465&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C3806465</a>]</span><br /> -
|
|
Muscle stiffness <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/16046003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">16046003</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0221170&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0221170</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003552</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003552" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003552</a>]</span><br /> -
|
|
Muscle pain <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/68962001" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">68962001</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M79.1" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M79.1</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0231528&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0231528</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003326" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003326</a>]</span><br /> -
|
|
Muscle cramps <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/45352006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">45352006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/55300003" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">55300003</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.83" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.83</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/728.85" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">728.85</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0037763&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0037763</a>, <a href="https://bioportal.bioontology.org/search?q=C0026821&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0026821</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003394</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003394" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003394</a>]</span><br /> -
|
|
Rhabdomyolysis <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/240131006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">240131006</a>, <a href="https://purl.bioontology.org/ontology/SNOMEDCT/89010004" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">89010004</a>]</span> <span class="mim-feature-ids hidden">[ICD10CM: <a href="https://purl.bioontology.org/ontology/ICD10CM/M62.82" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD10CM\', \'domain\': \'bioontology.org\'})">M62.82</a>]</span> <span class="mim-feature-ids hidden">[ICD9CM: <a href="https://purl.bioontology.org/ontology/ICD9CM/728.88" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'ICD9CM\', \'domain\': \'bioontology.org\'})">728.88</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0035410&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0035410</a> HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003201</a>]</span> <span class="mim-feature-ids hidden">[HPO: <a href="https://hpo.jax.org/app/browse/term/HP:0003201" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'HPO\', \'domain\': \'hpo.jax.org\'})">HP:0003201</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> LABORATORY ABNORMALITIES </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Exercise myoglobinuria <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/33033006" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">33033006</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0268699&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0268699</a>]</span><br /> -
|
|
Carnitine palmitoyltransferase II deficiency (25% of controls) <span class="mim-feature-ids hidden">[SNOMEDCT: <a href="https://purl.bioontology.org/ontology/SNOMEDCT/238002005" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'SNOMEDCT\', \'domain\': \'bioontology.org\'})">238002005</a>]</span> <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C0342790&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C0342790</a>]</span><br /> -
|
|
Creatine kinase normal between episodes <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850735&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850735</a>]</span><br /> -
|
|
Normal plasma and tissue carnitine <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850736&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850736</a>]</span><br /> -
|
|
Impaired long-chain fatty acid oxidation during prolonged, low-intensity exercise <span class="mim-feature-ids hidden">[UMLS: <a href="https://bioportal.bioontology.org/search?q=C1850737&searchproperties=true" target="_blank" onclick="gtag(\'event\', \'mim_outbound\', {\'name\': \'UMLS\', \'domain\': \'bioontology.org\'})">C1850737</a>]</span><br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MISCELLANEOUS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Onset in adolescence or adulthood<br /> -
|
|
Triggered by exercise, fasting, or other metabolic stresses<br /> -
|
|
Some heterozygous CPT2 mutation carriers may be symptomatic<br /> -
|
|
See also the lethal neonatal (<a href="/entry/608836">608836</a>) and infantile (<a href="/entry/600649">600649</a>) forms<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div>
|
|
<span class="h5 mim-font">
|
|
<strong> MOLECULAR BASIS </strong>
|
|
</span>
|
|
</div>
|
|
<div style="margin-left: 2em;">
|
|
|
|
<div>
|
|
<span class="mim-font">
|
|
|
|
- Caused by mutations in the carnitine palmitoyltransferase II gene (CPT2, <a href="/entry/600650#0002">600650.0002</a>)<br />
|
|
|
|
</span>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="text-right">
|
|
<a href="#mimClinicalSynopsisFold" data-toggle="collapse">▲ Close</a>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="text" class="mim-anchor"></a>
|
|
|
|
|
|
|
|
<h4 href="#mimTextFold" id="mimTextToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimTextToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
|
|
<span class="mim-font">
|
|
<span class="mim-tip-floating" qtip_title="<strong>Looking For More References?</strong>" qtip_text="Click the 'reference plus' icon <span class='glyphicon glyphicon-plus-sign'></span> at the end of each OMIM text paragraph to see more references related to the content of the preceding paragraph.">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<div id="mimTextFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because the stress-induced myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency is caused by homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase II gene (CPT2; <a href="/entry/600650">600650</a>) on chromosome 1p32. Some patients with heterozygous mutations in CPT2 have been reported.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="description" class="mim-anchor"></a>
|
|
<h4 href="#mimDescriptionFold" id="mimDescriptionToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDescriptionToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDescriptionFold" class="collapse in ">
|
|
<span class="mim-text-font">
|
|
<p>Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The myopathic form presents most frequently in children or young adults with muscle pain with or, in most cases, without myoglobinuria with elevation of serum creatine kinase precipitated by strenuous exercise, cold, fever, or prolonged fasting. Severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death (summary by <a href="#7" class="mim-tip-reference" title="Deschauer, M., Wieser, T., Zierz, S. <strong>Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.</strong> Arch. Neurol. 62: 37-41, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15642848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15642848</a>] [<a href="https://doi.org/10.1001/archneur.62.1.37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15642848">Deschauer et al., 2005</a> and <a href="#21" class="mim-tip-reference" title="Longo, N., Amat di San Filippo, C., Pasquali, M. <strong>Disorders of carnitine transport and the carnitine cycle.</strong> Am. J. Med. Genet. 142C: 77-85, 2006.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16602102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16602102</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16602102[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1002/ajmg.c.30087" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="16602102">Longo et al., 2006</a>). <a href="https://pubmed.ncbi.nlm.nih.gov/?term=16602102+15642848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>See also the lethal neonatal (<a href="/entry/608836">608836</a>) and infantile (<a href="/entry/600649">600649</a>) forms of the disorder, which are also caused by mutation in the CPT2 gene.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalFeaturesFold" id="mimClinicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#12" class="mim-tip-reference" title="Engel, W. K., Vick, N. A., Glueck, C. J., Levy, R. I. <strong>A skeletal muscle disorder associated with intermittent symptoms and a possible defect of lipid metabolism.</strong> New Eng. J. Med. 282: 697-704, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416202</a>] [<a href="https://doi.org/10.1056/NEJM197003262821301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5416202">Engel et al. (1970)</a> reported 18-year-old identical twin sisters who experienced muscle aching with myoglobinuria, sometimes induced by exercise, from early childhood. Fasting, or high-fat low-carbohydrate isocaloric diet, induced muscle aches and a marked rise in serum muscle enzymes without associated ketonemia or ketonuria, suggesting a defect in an energy source to muscle. As administration of medium-chain triglycerides produced the expected normal ketonemia and ketonuria, <a href="#12" class="mim-tip-reference" title="Engel, W. K., Vick, N. A., Glueck, C. J., Levy, R. I. <strong>A skeletal muscle disorder associated with intermittent symptoms and a possible defect of lipid metabolism.</strong> New Eng. J. Med. 282: 697-704, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416202</a>] [<a href="https://doi.org/10.1056/NEJM197003262821301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5416202">Engel et al. (1970)</a> postulated a defect in long-chain fatty acid utilization. <a href="#5" class="mim-tip-reference" title="Bressler, R. <strong>Carnitine and the twins. (Editorial)</strong> New Eng. J. Med. 282: 745-746, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416207</a>] [<a href="https://doi.org/10.1056/NEJM197003262821310" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5416207">Bressler (1970)</a> suggested involvement of the carnitine system. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=5416207+5416202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#10" class="mim-tip-reference" title="DiMauro, S., DiMauro, P. M. M. <strong>Muscle carnitine palmityl transferase deficiency and myoglobinuria.</strong> Science 182: 929-931, 1973.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4745596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4745596</a>] [<a href="https://doi.org/10.1126/science.182.4115.929" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="4745596">DiMauro and DiMauro (1973)</a> reported a patient who likely had the same disorder as the twins of <a href="#12" class="mim-tip-reference" title="Engel, W. K., Vick, N. A., Glueck, C. J., Levy, R. I. <strong>A skeletal muscle disorder associated with intermittent symptoms and a possible defect of lipid metabolism.</strong> New Eng. J. Med. 282: 697-704, 1970.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416202</a>] [<a href="https://doi.org/10.1056/NEJM197003262821301" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="5416202">Engel et al. (1970)</a>. Three different methods detected very low activity of muscle carnitine palmitoyltransferase; the authors noted that deficiency of muscle carnitine palmitoyltransferase had been reported in children and young adults. Clinical features included recurrent attacks of myoglobinuria precipitated by prolonged exercise, especially after fasting, by cold exposure, or by stress; all conditions normally associated with an increased dependency of muscle on lipid metabolism. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=4745596+5416202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#6" class="mim-tip-reference" title="Cumming, W. J. K., Hardy, M., Hudgson, P., Walls, J. <strong>Carnitine palmitoyl transferase deficiency.</strong> J. Neurol. Sci. 30: 247-258, 1976.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/187736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">187736</a>] [<a href="https://doi.org/10.1016/0022-510x(76)90131-3" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="187736">Cumming et al. (1976)</a> described a patient who had muscle cramps and myoglobinuria triggered by violent exercise after fasting and suppressed by a high-carbohydrate diet. <a href="#18" class="mim-tip-reference" title="Hostetler, K. Y., Hoppel, C. L., Romine, J. S., Sipe, J. C., Gross, S. R., Higginbottom, P. A. <strong>Partial deficiency of muscle carnitine palmitoyltransferase with normal ketone production.</strong> New Eng. J. Med. 298: 553-557, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/272487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">272487</a>] [<a href="https://doi.org/10.1056/NEJM197803092981007" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="272487">Hostetler et al. (1978)</a> reported a patient with recurrent myoglobinuria. Muscle metabolism of carbohydrates was normal. Prolonged fasting increased serum creatine phosphokinase levels. Plasma levels of free fatty acids, acetoacetate, and beta-hydroxybutyrate rose normally with fasting. A partial deficiency of carnitine palmitoyltransferase was found in muscle. Electron microscopy showed lipid droplets in the patient's muscle, and lipid analysis showed a 3-fold increase in triglycerides. <a href="#2" class="mim-tip-reference" title="Bank, W. J., DiMauro, S., Bonilla, E., Capuzzi, D. M., Rowland, L. P. <strong>A disorder of muscle lipid metabolism and myoglobinuria: absence of carnitine palmityl transferase.</strong> New Eng. J. Med. 292: 443-449, 1975.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/123038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">123038</a>] [<a href="https://doi.org/10.1056/NEJM197502272920902" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="123038">Bank et al. (1975)</a> described similar clinical features in 2 brothers who had increased plasma triglycerides and reduced ketone production despite high plasma free fatty acids. A low-fat diet of the type used for type I hyperlipoproteinemia (<a href="/entry/238600">238600</a>) was recommended, as caloric restriction may aggravate myoglobinuria. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=272487+123038+187736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#9" class="mim-tip-reference" title="DiDonato, S., Cornelio, F., Pacini, L., Peluchetti, D., Rimoldi, M., Spreafico, S. <strong>Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts.</strong> Ann. Neurol. 4: 465-467, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/736528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">736528</a>] [<a href="https://doi.org/10.1002/ana.410040513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="736528">DiDonato et al. (1978)</a> reported a young man with CPT II deficiency who had reduced enzyme activity in muscle biopsy and in cultured fibroblasts, suggesting that it is a systemic rather than exclusively muscular condition. <a href="#27" class="mim-tip-reference" title="Scholte, H. R., Jennekens, F. G., Bouvy, J. J. B. J. <strong>Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes.</strong> J. Neurol. Sci. 40: 39-51, 1979.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/762593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">762593</a>] [<a href="https://doi.org/10.1016/0022-510x(79)90007-8" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="762593">Scholte et al. (1979)</a> described an otherwise healthy young man who had muscle pain and myoglobinuria after strenuous exercise. During fasting, serum creatine kinase remained low and ketogenesis was normal. Deficiency of CPT II was present in skeletal muscle and leukocytes, whereas CPT I activity was normal and showed normal kinetics. Skeletal muscle biopsy showed no abnormal lipid storage. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=736528+762593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#3" class="mim-tip-reference" title="Bertorini, T., Yeh, Y. Y., Trevisan, C., Stadlan, E., Sabesin, S., DiMauro, S. <strong>Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure.</strong> Neurology 30: 263-271, 1980.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7189025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7189025</a>] [<a href="https://doi.org/10.1212/wnl.30.3.263" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="7189025">Bertorini et al. (1980)</a> reported the unusual case of a man who had symptomatic onset of CPT deficiency at age 51 when infection precipitated acute respiratory failure and myoglobinuria. His parents were first cousins. At birth, he had required resuscitation, and severely impaired vision and mild bilateral spasticity led to a relatively sedentary life, which may have been responsible for his escape from earlier symptoms. At age 46 years, he had increased serum creatine phosphokinase of 1200 units (normal, 0-200) without obvious cause. Deficiency of CPT in muscle, leukocytes, and liver was documented at the time of his acute episodes at age 51 years. The liver enzyme defect explained the decreased production of ketone bodies during fasting, thus depriving the muscle of crucial sources of energy. Plasma ketone bodies rose normally when medium-chain triglycerides were administered. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7189025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#22" class="mim-tip-reference" title="Meola, G., Bresolin, N., Rimoldi, M., Velicogna, M., Fortunato, F., Scarlato, G. <strong>Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets.</strong> J. Neurol. 235: 74-79, 1987.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3430194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3430194</a>] [<a href="https://doi.org/10.1007/BF00718013" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="3430194">Meola et al. (1987)</a> demonstrated CPT deficiency in fibroblasts cultures from a patient with CPT deficiency. Similar studies of her parents and daughter showed intermediate enzyme levels, suggesting autosomal recessive inheritance. <a href="#20" class="mim-tip-reference" title="Kieval, R., Sotrel, A., Weinblatt, M. E. <strong>Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme.</strong> Arch. Neurol. 46: 575-576, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2712755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2712755</a>] [<a href="https://doi.org/10.1001/archneur.1989.00520410111034" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="2712755">Kieval et al. (1989)</a> reported a 17-year-boy with complete CPT deficiency (95% reduction in enzyme activity) who showed classic rhabdomyolysis precipitated by rigorous skiing. His mother, a presumed heterozygote, had partial CPT deficiency (enzyme activity 50% of normal) manifest as chronic myopathy with a 15-year history of lower limb muscle pain and stiffness, particularly following prolonged exercise. She had never experienced episodes of dark-colored urine, but leg weakness had been progressive. Examination showed proximal muscle weakness of the hip and shoulder girdles. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=3430194+2712755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#19" class="mim-tip-reference" title="Kelly, K. J., Garland, J. S., Tang, T. T., Shug, A. L., Chusid, M. J. <strong>Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmitoyltransferase deficiency.</strong> Pediatrics 84: 312-316, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2748260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2748260</a>]" pmid="2748260">Kelly et al. (1989)</a> reported a 13-year-old girl who developed severe rhabdomyolysis following an influenza B infection. Her course was complicated by episodes of hyperkalemia, hypocalcemia, hyperphosphatemia, myoglobinuria, renal failure, and lethal arrhythmia. Muscle biopsy showed CPT II deficiency. An asymptomatic sister was found to have the same disorder. <a href="#19" class="mim-tip-reference" title="Kelly, K. J., Garland, J. S., Tang, T. T., Shug, A. L., Chusid, M. J. <strong>Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmitoyltransferase deficiency.</strong> Pediatrics 84: 312-316, 1989.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2748260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2748260</a>]" pmid="2748260">Kelly et al. (1989)</a> noted that phenotypic heterogeneity in CPT II deficiency may be due to differences in the extent of the enzymatic defect as well as to variable exposure to environmental factors such as prolonged exercise, cold, fasting, and infection. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2748260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#23" class="mim-tip-reference" title="Mongini, T., Doriguzzi, C., Palmucci, L., Chiado-Piat, L., Maniscalco, M., Schiffer, D. <strong>Myoglobinuria and carnitine palmityl transferase deficiency in father and son.</strong> J. Neurol. 238: 323-324, 1991.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1940982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1940982</a>] [<a href="https://doi.org/10.1007/BF00315330" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="1940982">Mongini et al. (1991)</a> reported an 18-year-old man with classic late-onset CPT II deficiency characterized by recurrent myoglobinuria following exercise and fasting. His 53-year-old father had similar episodes, although his mother and elder brother were asymptomatic. The authors noted that the proband's parents originated from the same village in Italy with less than 1,000 inhabitants, and that the occurrence of the disorder in 2 generations showed 'quasidominant' inheritance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1940982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p>In an 18-year-old female patient, <a href="#29" class="mim-tip-reference" title="Tein, I., Christodoulou, J., Donner, E., McInnes, R. R. <strong>Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis.</strong> J. Pediat. 124: 938-940, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8201482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8201482</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)83187-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8201482">Tein et al. (1994)</a> described recurrent pancreatitis at the ages of 12 and 15 years, occurring after prolonged periods of exercise coupled with a high-fat diet. After the onset of recurrent myoglobinuria when she was 16 years old, deficiency of CPT II (32% residual activity) was established by study of cultured skin fibroblasts. <a href="#29" class="mim-tip-reference" title="Tein, I., Christodoulou, J., Donner, E., McInnes, R. R. <strong>Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis.</strong> J. Pediat. 124: 938-940, 1994.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8201482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8201482</a>] [<a href="https://doi.org/10.1016/s0022-3476(05)83187-7" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8201482">Tein et al. (1994)</a> concluded that CPT II deficiency can be a cause of pancreatitis and should be considered in the differential diagnosis, even in the absence of overt myoglobinuria. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8201482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#16" class="mim-tip-reference" title="Handig, I., Dams, E., Taroni, F., Van Laere, S., de Barsy, T., Willems, P. J. <strong>Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.</strong> Hum. Genet. 97: 291-293, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786066</a>] [<a href="https://doi.org/10.1007/BF02185756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786066">Handig et al. (1996)</a> reported a consanguineous CPT II deficient-family with 3 affected members who showed phenotypic variability. The proband, a male, suffered from a classic form of adult CPT II deficiency with recurrent rhabdomyolysis with myoglobinuria and serum creatine kinase levels up to more than 100,000 U/l. By contrast, a female cousin was almost asymptomatic and had never had episodes of acute muscular injury with rhabdomyolysis and myoglobinuria, although her affected sister had died at the age of 16 years during a severe attack of muscle injury. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#15" class="mim-tip-reference" title="Haap, M., Thamer, C., Machann, J., Tschritter, O., Loblein, K., Kellerer, M., Schick, F., Jacob, S., Haring, H.-U., Stumvoll, M. <strong>Metabolic characterization of a woman homozygous for the ser113leu missense mutation in carnitine palmitoyl transferase II.</strong> J. Clin. Endocr. Metab. 87: 2139-2143, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11994355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11994355</a>] [<a href="https://doi.org/10.1210/jcem.87.5.8380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11994355">Haap et al. (2002)</a> performed a series of metabolic studies in a 43-year-old woman homozygous for the most common mutation in CPT II deficiency (S113L; <a href="/entry/600650#0002">600650.0002</a>). Compared with a female control group, the patient showed normal glucose tolerance but was severely insulin resistant; basal lipolysis was markedly reduced; and carbohydrate oxidation was maximally increased in the basal state and did not increase further during insulin stimulation. Conversely, lipid oxidation was virtually absent and did not decrease during insulin stimulation. Surprisingly, intramyocellular lipids were well within the range of the control group. The authors concluded that genetic CPT II deficiency is characterized by insulin resistance, which is not explained by increased intramyocellular lipids. <a href="#15" class="mim-tip-reference" title="Haap, M., Thamer, C., Machann, J., Tschritter, O., Loblein, K., Kellerer, M., Schick, F., Jacob, S., Haring, H.-U., Stumvoll, M. <strong>Metabolic characterization of a woman homozygous for the ser113leu missense mutation in carnitine palmitoyl transferase II.</strong> J. Clin. Endocr. Metab. 87: 2139-2143, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11994355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11994355</a>] [<a href="https://doi.org/10.1210/jcem.87.5.8380" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11994355">Haap et al. (2002)</a> concluded that the inability of skeletal muscle to oxidize long chain free fatty acids has far-reaching metabolic consequences, such as insulin resistance. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11994355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#24" class="mim-tip-reference" title="Olpin, S. E., Afifi, A., Clark, S., Manning, N. J., Bonham, J. R., Dalton, A., Leonard, J. V., Land, J. M., Andresen, B. S., Morris, A. A., Muntoni, F., Turnbull, D., Pourfarzam, M., Rahman, S., Pollitt, R. J. <strong>Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.</strong> J. Inherit. Metab. Dis. 26: 543-557, 2003.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14605500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14605500</a>] [<a href="https://doi.org/10.1023/a:1025947930752" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="14605500">Olpin et al. (2003)</a> noted that males comprise 88% of patients with myopathic CPT II deficiency. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14605500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J. <strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong> Ann. Neurol. 57: 60-66, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622536</a>] [<a href="https://doi.org/10.1002/ana.20320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15622536">Orngreen et al. (2005)</a> used indirect calorimetry and stable isotope methodology to examine glucose and palmitate fuel utilization in patients with compound heterozygous and heterozygous mutations in the CPT2 gene. Patients with compound heterozygous mutations had normal long-chain fatty acid oxidation at rest, but severely impaired fatty acid oxidation during prolonged low-intensity exercise. Three individuals who were heterozygous for a single CPT2 mutation showed intermediate levels of impairment. The data indicated that the energy deficit in those with 2 CPT2 mutations was mitigated by enhanced muscle glycogenolysis. Residual CPT2 enzyme activity in fibroblasts ranged from 10 to 36% of normal controls in CPT II deficiency patients, and 46 to 65% in subjects with a single CPT2 mutation. The authors identified an E454X and a D213G CPT2 mutation (<a href="/entry/600650#0015">600650.0015</a> and <a href="/entry/600650#0016">600650.0016</a>) in 2 of the heterozygous patients who had reported myopathic symptoms with muscle cramping and rhabdomyolysis. <a href="#25" class="mim-tip-reference" title="Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J. <strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong> Ann. Neurol. 57: 60-66, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622536</a>] [<a href="https://doi.org/10.1002/ana.20320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15622536">Orngreen et al. (2005)</a> concluded that some carriers of single CPT2 mutations may become symptomatic during exercise, which is consistent with a dominant-negative effect. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15622536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Deschauer, M., Wieser, T., Zierz, S. <strong>Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.</strong> Arch. Neurol. 62: 37-41, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15642848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15642848</a>] [<a href="https://doi.org/10.1001/archneur.62.1.37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15642848">Deschauer et al. (2005)</a> provided a review of the myopathic form of CPT II deficiency. In their series of 28 patients, exercise-induced myalgia was the most common symptom (96% of patients), whereas myoglobinuria was not found in 21% of patients. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15642848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="diagnosis" class="mim-anchor"></a>
|
|
<h4 href="#mimDiagnosisFold" id="mimDiagnosisToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimDiagnosisToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimDiagnosisFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#14" class="mim-tip-reference" title="Gempel, K., Kiechl, S., Hofmann, S., Lochmuller, H., Kiechl-Kohlendorfer, U., Willeit, J., Sperl, W., Rettinger, A., Bieger, I., Pongratz, D., Gerbitz, K. D., Bauer, M. F. <strong>Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry.</strong> J. Inherit. Metab. Dis. 25: 17-27, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11999976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11999976</a>] [<a href="https://doi.org/10.1023/a:1015109127986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11999976">Gempel et al. (2002)</a> compared the tandem mass spectra of serum acylcarnitines of 9 CPT II-deficient patients to those of a cohort of 99 patients with other neuromuscular disorders and metabolic conditions. The spectra in CPT II deficiency showed characteristic elevations of palmitoylcarnitine and oleoylcarnitine, while acylcarnitine was not elevated. In their study, the ratio of palmitoylcarnitine and oleoylcarnitine to acylcarnitine detected all CPT II deficiencies and discriminated them from unspecific alterations of serum acylcarnitines. <a href="#14" class="mim-tip-reference" title="Gempel, K., Kiechl, S., Hofmann, S., Lochmuller, H., Kiechl-Kohlendorfer, U., Willeit, J., Sperl, W., Rettinger, A., Bieger, I., Pongratz, D., Gerbitz, K. D., Bauer, M. F. <strong>Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry.</strong> J. Inherit. Metab. Dis. 25: 17-27, 2002.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11999976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11999976</a>] [<a href="https://doi.org/10.1023/a:1015109127986" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="11999976">Gempel et al. (2002)</a> suggested mass spectrometry of serum acylcarnitines as a rapid screening test that should be included early in the diagnostic work-up of patients with recurrent myoglobinuria, recurrent muscular weakness, and myalgia. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11999976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#13" class="mim-tip-reference" title="Fontaine, M., Kim, I., Dessein, A.-F., Mention-Mulliez, K., Dobbelaere, D., Douillard, C., Sole, G., Schiff, M., Jaussaud, R., Espil-Taris, C., Boutron, A., Wuyts, W., Acquaviva, C., Vianey-Saban, C., Roland, D., Joncquel-Chevalier Curt, M., Vamecq, J. <strong>Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.</strong> Molec. Genet. Metab. 123: 441-448, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29478820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29478820</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.02.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29478820">Fontaine et al. (2018)</a> reported a method to diagnose CPT II in affected individuals by using pentadeuterated palmitate in patient whole blood to measure fatty acid oxidation flux. In 8 individuals with a history of rhabdomyolysis, nondiagnostic acylcarnitine profiles, and biallelic mutations in the CPT2 gene, <a href="#13" class="mim-tip-reference" title="Fontaine, M., Kim, I., Dessein, A.-F., Mention-Mulliez, K., Dobbelaere, D., Douillard, C., Sole, G., Schiff, M., Jaussaud, R., Espil-Taris, C., Boutron, A., Wuyts, W., Acquaviva, C., Vianey-Saban, C., Roland, D., Joncquel-Chevalier Curt, M., Vamecq, J. <strong>Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.</strong> Molec. Genet. Metab. 123: 441-448, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29478820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29478820</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.02.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29478820">Fontaine et al. (2018)</a> found that the flux assay showed normal deuterated palmitoylcarnitine (C16-cn) formation but abnormal downstream deuterated metabolites, resulting in increased C16-cn to downstream deuterated metabolites, resulting in increased C16-cn to deuterated C2-cn to C14-cn ratios. <a href="#13" class="mim-tip-reference" title="Fontaine, M., Kim, I., Dessein, A.-F., Mention-Mulliez, K., Dobbelaere, D., Douillard, C., Sole, G., Schiff, M., Jaussaud, R., Espil-Taris, C., Boutron, A., Wuyts, W., Acquaviva, C., Vianey-Saban, C., Roland, D., Joncquel-Chevalier Curt, M., Vamecq, J. <strong>Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.</strong> Molec. Genet. Metab. 123: 441-448, 2018.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29478820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29478820</a>] [<a href="https://doi.org/10.1016/j.ymgme.2018.02.005" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="29478820">Fontaine et al. (2018)</a> concluded that this assay is useful in diagnosing CPT II and in assessing the pathogenicity of novel CPT2 variants. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29478820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="biochemicalFeatures" class="mim-anchor"></a>
|
|
<h4 href="#mimBiochemicalFeaturesFold" id="mimBiochemicalFeaturesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimBiochemicalFeaturesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimBiochemicalFeaturesFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#11" class="mim-tip-reference" title="Elizondo, G., Matern, D., Vockley, J., Harding, C. O., Gillingham, M. B. <strong>Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.</strong> Molec. Genet. Metab. 131: 90-97, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32928639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32928639</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32928639[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.09.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32928639">Elizondo et al. (2020)</a> studied plasma acylcarnitine levels in 11 patients with CPT2 deficiency after an overnight fast, after a meal, and after exercise. After an overnight fast, the highest long chain acylcarnitine species level was 18:1. After a meal, the 18:1 level decreased by 61% and after exercise the 18:1 acylcarnitine increased by 223%, although the individual patient responses were variable. <a href="#11" class="mim-tip-reference" title="Elizondo, G., Matern, D., Vockley, J., Harding, C. O., Gillingham, M. B. <strong>Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.</strong> Molec. Genet. Metab. 131: 90-97, 2020.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32928639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32928639</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32928639[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>] [<a href="https://doi.org/10.1016/j.ymgme.2020.09.001" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="32928639">Elizondo et al. (2020)</a> next correlated the sum of long chain acylcarnitines with free fatty acids to determine the contribution of lipolysis to long chain acylcarnitines after an overnight fast, after a meal, and after exercise in the 11 patients with CPT2 deficiency, 8 patients with VLCAD deficiency (201475), and 11 patients with LCHAD deficiency (609016). The free fatty acids correlated to total long chain acylcarnitines after overnight fasting but not after exercise, indicating that lipolysis is a significant contributor to acylcarnitine levels with fasting but not exercise. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32928639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="clinicalManagement" class="mim-anchor"></a>
|
|
<h4 href="#mimClinicalManagementFold" id="mimClinicalManagementToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimClinicalManagementToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Clinical Management</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimClinicalManagementFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p><a href="#4" class="mim-tip-reference" title="Bonnefont, J.-P., Bastin, J., Behin, A., Djouadi, F. <strong>Bezafibrate for an inborn mitochondrial beta-oxidation defect. (Letter)</strong> New Eng. J. Med. 360: 838-840, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19228633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19228633</a>] [<a href="https://doi.org/10.1056/NEJMc0806334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19228633">Bonnefont et al. (2009)</a> found that bezafibrate, a commonly used hypolipidemic drug, restored the capacity for normal fatty acid oxidation in muscle cells in patients with a mild form of CPT2 deficiency by stimulating the expression of the mutated gene. They administered bezafibrate to 6 adults with mild CPT2 deficiency for 6 months at a dose of 3 200-mg tablets per day. The primary end point was the level of fatty acid oxidation in skeletal muscle. Mitochondria were isolated from muscle biopsy specimens obtained before and after treatment, and mitochondrial respiration rates were measured in the presence of palmitoyl L-carnitine, the specific substrate of CPT2. Before treatment, the palmitoyl L-carnitine oxidation levels were markedly reduced (by 21 to 54% of the normal value), reductions that were consistent with CPT2 deficiency. After bezafibrate treatment, the values increased significantly in the 6 patients (by 60 to 284%, P = 0.03). In addition, CPT2 mRNA in skeletal muscle increased in all the patients (by 20 to 93%, P = 0.002), as did the CPT2 protein level. In vitro analysis of myoblasts from the patients showed that the initial defect in fatty acid oxidation (49 to 75% of control values) was fully corrected after the cells had been exposed to bezafibrate (P = 0.002). There were 3 to 24 episodes of rhabdomyolysis per patient over a 6-month period before treatment and 0 to 6 episodes per patient during treatment. Quality of life questionnaires indicated less bodily pain and less limitation of physical activity. <a href="#4" class="mim-tip-reference" title="Bonnefont, J.-P., Bastin, J., Behin, A., Djouadi, F. <strong>Bezafibrate for an inborn mitochondrial beta-oxidation defect. (Letter)</strong> New Eng. J. Med. 360: 838-840, 2009.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19228633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19228633</a>] [<a href="https://doi.org/10.1056/NEJMc0806334" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="19228633">Bonnefont et al. (2009)</a> suggested that the positive results of this pilot study warranted a larger clinical trial. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19228633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<a id="molecularGenetics" class="mim-anchor"></a>
|
|
<h4 href="#mimMolecularGeneticsFold" id="mimMolecularGeneticsToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span id="mimMolecularGeneticsToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<div id="mimMolecularGeneticsFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<p>In 8 unrelated patients with familial recurrent hemoglobinuria and CPT II deficiency, <a href="#28" class="mim-tip-reference" title="Taroni, F., Verderio, E., Dworzak, F., Willems, P. J., Cavadini, P., DiDonato, S. <strong>Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.</strong> Nature Genet. 4: 314-320, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8358442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8358442</a>] [<a href="https://doi.org/10.1038/ng0793-314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8358442">Taroni et al. (1993)</a> identified a homozygous mutation in the CPT2 gene (S113L; <a href="/entry/600650#0002">600650.0002</a>). One of the patients had been reported by <a href="#9" class="mim-tip-reference" title="DiDonato, S., Cornelio, F., Pacini, L., Peluchetti, D., Rimoldi, M., Spreafico, S. <strong>Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts.</strong> Ann. Neurol. 4: 465-467, 1978.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/736528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">736528</a>] [<a href="https://doi.org/10.1002/ana.410040513" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="736528">DiDonato et al. (1978)</a>. Among a total of 25 patients with the disorder, <a href="#28" class="mim-tip-reference" title="Taroni, F., Verderio, E., Dworzak, F., Willems, P. J., Cavadini, P., DiDonato, S. <strong>Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.</strong> Nature Genet. 4: 314-320, 1993.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8358442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8358442</a>] [<a href="https://doi.org/10.1038/ng0793-314" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8358442">Taroni et al. (1993)</a> found the S113L mutation in 56% of the mutant CPT II alleles. <a href="#16" class="mim-tip-reference" title="Handig, I., Dams, E., Taroni, F., Van Laere, S., de Barsy, T., Willems, P. J. <strong>Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.</strong> Hum. Genet. 97: 291-293, 1996.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786066</a>] [<a href="https://doi.org/10.1007/BF02185756" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="8786066">Handig et al. (1996)</a> identified homozygosity for the S113L mutation in 3 affected patients from a consanguineous family. <a href="https://pubmed.ncbi.nlm.nih.gov/?term=8358442+736528+8786066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#7" class="mim-tip-reference" title="Deschauer, M., Wieser, T., Zierz, S. <strong>Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.</strong> Arch. Neurol. 62: 37-41, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15642848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15642848</a>] [<a href="https://doi.org/10.1001/archneur.62.1.37" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15642848">Deschauer et al. (2005)</a> found the S113L mutation in 35 of 46 mutant CPT II alleles (76%). <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15642848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p><p><a href="#25" class="mim-tip-reference" title="Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J. <strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong> Ann. Neurol. 57: 60-66, 2005.[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622536</a>] [<a href="https://doi.org/10.1002/ana.20320" target="_blank" onclick="gtag('event', 'mim_outbound', {'destination': 'Publisher'})">Full Text</a>]" pmid="15622536">Orngreen et al. (2005)</a> reported a patient with stress-induced myopathic carnitine palmitoytransferase II deficiency who was heterozygous for a truncating mutation in the CPT2 gene (<a href="/entry/600650#0015">600650.0015</a>). The patient had an episode of rhabdomyolysis after ingestion of alcohol and no food the night before a swimming practice. Residual CPT enzyme activity was 46% of control values, and biochemical studies indicated impaired fatty acid oxidation with prolonged exercise. <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15622536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})"><span class="glyphicon glyphicon-plus-sign mim-tip-hint" title="Click this 'reference-plus' icon to see articles related to this paragraph in PubMed."></span></a></p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="seeAlso" class="mim-anchor"></a>
|
|
<h4 href="#mimSeeAlsoFold" id="mimSeeAlsoToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimSeeAlsoToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<div id="mimSeeAlsoFold" class="collapse in mimTextToggleFold">
|
|
<span class="mim-text-font">
|
|
<a href="#Angelini1981" class="mim-tip-reference" title="Angelini, C., Freddo, L., Battistella, P., Bresolin, N., Pierobon-Bormioli, S., Armani, M., Vergani, L. <strong>Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal recessive inheritance.</strong> Neurology 31: 883-886, 1981.">Angelini et al. (1981)</a>; <a href="#Di1981" class="mim-tip-reference" title="Di Donato, S., Castiglione, A., Rimoldi, M., Cornelio, F., Vendemia, F., Cardace, G., Bertagnolio, B. <strong>Heterogeneity of carnitine palmitoyltransferase deficiency.</strong> J. Neurol. Sci. 50: 207-215, 1981.">Di Donato et al. (1981)</a>; <a href="#Herman1977" class="mim-tip-reference" title="Herman, J., Nadler, H. L. <strong>Recurrent myoglobinuria and muscle carnitine palmityltransferase deficiency.</strong> J. Pediat. 91: 247-250, 1977.">Herman and Nadler
|
|
(1977)</a>; <a href="#Reza1978" class="mim-tip-reference" title="Reza, M. J., Kar, N. C., Pearson, C. M., Kark, R. A. P. <strong>Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency.</strong> Ann. Intern. Med. 88: 610-615, 1978.">Reza et al. (1978)</a>; <a href="#Thuillier2003" class="mim-tip-reference" title="Thuillier, L., Rostane, H., Droin, V., Demaugre, F., Brivet, M., Kadhom, N., Prip-Buus, C., Gobin, S., Saudubray, J.-M., Bonnefont, J.-P. <strong>Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.</strong> Hum. Mutat. 21: 493-501, 2003.">Thuillier et al. (2003)</a>; <a href="#Trevisan1984" class="mim-tip-reference" title="Trevisan, C. P., Angelini, C., Freddo, L., Isaya, G., Martinuzzi, A. <strong>Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.</strong> Neurology 34: 353-356, 1984.">Trevisan et al.
|
|
(1984)</a>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="references"class="mim-anchor"></a>
|
|
<h4 href="#mimReferencesFold" id="mimReferencesToggle" class="mimTriangleToggle" style="cursor: pointer;" data-toggle="collapse">
|
|
<span class="mim-font">
|
|
<span id="mimReferencesToggleTriangle" class="small mimTextToggleTriangle">▼</span>
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div id="mimReferencesFold" class="collapse in mimTextToggleFold">
|
|
<ol>
|
|
|
|
<li>
|
|
<a id="1" class="mim-anchor"></a>
|
|
<a id="Angelini1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Angelini, C., Freddo, L., Battistella, P., Bresolin, N., Pierobon-Bormioli, S., Armani, M., Vergani, L.
|
|
<strong>Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal recessive inheritance.</strong>
|
|
Neurology 31: 883-886, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7195512/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7195512</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7195512" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.31.7.883" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="2" class="mim-anchor"></a>
|
|
<a id="Bank1975" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bank, W. J., DiMauro, S., Bonilla, E., Capuzzi, D. M., Rowland, L. P.
|
|
<strong>A disorder of muscle lipid metabolism and myoglobinuria: absence of carnitine palmityl transferase.</strong>
|
|
New Eng. J. Med. 292: 443-449, 1975.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/123038/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">123038</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=123038" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197502272920902" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="3" class="mim-anchor"></a>
|
|
<a id="Bertorini1980" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bertorini, T., Yeh, Y. Y., Trevisan, C., Stadlan, E., Sabesin, S., DiMauro, S.
|
|
<strong>Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure.</strong>
|
|
Neurology 30: 263-271, 1980.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7189025/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7189025</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7189025" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.30.3.263" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="4" class="mim-anchor"></a>
|
|
<a id="Bonnefont2009" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bonnefont, J.-P., Bastin, J., Behin, A., Djouadi, F.
|
|
<strong>Bezafibrate for an inborn mitochondrial beta-oxidation defect. (Letter)</strong>
|
|
New Eng. J. Med. 360: 838-840, 2009.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/19228633/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">19228633</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=19228633" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJMc0806334" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="5" class="mim-anchor"></a>
|
|
<a id="Bressler1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Bressler, R.
|
|
<strong>Carnitine and the twins. (Editorial)</strong>
|
|
New Eng. J. Med. 282: 745-746, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416207/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416207</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5416207" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197003262821310" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="6" class="mim-anchor"></a>
|
|
<a id="Cumming1976" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Cumming, W. J. K., Hardy, M., Hudgson, P., Walls, J.
|
|
<strong>Carnitine palmitoyl transferase deficiency.</strong>
|
|
J. Neurol. Sci. 30: 247-258, 1976.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/187736/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">187736</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=187736" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0022-510x(76)90131-3" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="7" class="mim-anchor"></a>
|
|
<a id="Deschauer2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Deschauer, M., Wieser, T., Zierz, S.
|
|
<strong>Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.</strong>
|
|
Arch. Neurol. 62: 37-41, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15642848/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15642848</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15642848" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.62.1.37" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="8" class="mim-anchor"></a>
|
|
<a id="Di Donato1981" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Di Donato, S., Castiglione, A., Rimoldi, M., Cornelio, F., Vendemia, F., Cardace, G., Bertagnolio, B.
|
|
<strong>Heterogeneity of carnitine palmitoyltransferase deficiency.</strong>
|
|
J. Neurol. Sci. 50: 207-215, 1981.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/7229666/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">7229666</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=7229666" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0022-510x(81)90167-2" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="9" class="mim-anchor"></a>
|
|
<a id="DiDonato1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
DiDonato, S., Cornelio, F., Pacini, L., Peluchetti, D., Rimoldi, M., Spreafico, S.
|
|
<strong>Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts.</strong>
|
|
Ann. Neurol. 4: 465-467, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/736528/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">736528</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=736528" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.410040513" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="10" class="mim-anchor"></a>
|
|
<a id="DiMauro1973" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
DiMauro, S., DiMauro, P. M. M.
|
|
<strong>Muscle carnitine palmityl transferase deficiency and myoglobinuria.</strong>
|
|
Science 182: 929-931, 1973.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/4745596/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">4745596</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=4745596" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1126/science.182.4115.929" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="11" class="mim-anchor"></a>
|
|
<a id="Elizondo2020" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Elizondo, G., Matern, D., Vockley, J., Harding, C. O., Gillingham, M. B.
|
|
<strong>Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.</strong>
|
|
Molec. Genet. Metab. 131: 90-97, 2020.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/32928639/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">32928639</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=32928639[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=32928639" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ymgme.2020.09.001" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="12" class="mim-anchor"></a>
|
|
<a id="Engel1970" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Engel, W. K., Vick, N. A., Glueck, C. J., Levy, R. I.
|
|
<strong>A skeletal muscle disorder associated with intermittent symptoms and a possible defect of lipid metabolism.</strong>
|
|
New Eng. J. Med. 282: 697-704, 1970.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/5416202/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">5416202</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=5416202" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197003262821301" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="13" class="mim-anchor"></a>
|
|
<a id="Fontaine2018" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Fontaine, M., Kim, I., Dessein, A.-F., Mention-Mulliez, K., Dobbelaere, D., Douillard, C., Sole, G., Schiff, M., Jaussaud, R., Espil-Taris, C., Boutron, A., Wuyts, W., Acquaviva, C., Vianey-Saban, C., Roland, D., Joncquel-Chevalier Curt, M., Vamecq, J.
|
|
<strong>Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.</strong>
|
|
Molec. Genet. Metab. 123: 441-448, 2018.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/29478820/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">29478820</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=29478820" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/j.ymgme.2018.02.005" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="14" class="mim-anchor"></a>
|
|
<a id="Gempel2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Gempel, K., Kiechl, S., Hofmann, S., Lochmuller, H., Kiechl-Kohlendorfer, U., Willeit, J., Sperl, W., Rettinger, A., Bieger, I., Pongratz, D., Gerbitz, K. D., Bauer, M. F.
|
|
<strong>Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry.</strong>
|
|
J. Inherit. Metab. Dis. 25: 17-27, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11999976/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11999976</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11999976" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1023/a:1015109127986" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="15" class="mim-anchor"></a>
|
|
<a id="Haap2002" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Haap, M., Thamer, C., Machann, J., Tschritter, O., Loblein, K., Kellerer, M., Schick, F., Jacob, S., Haring, H.-U., Stumvoll, M.
|
|
<strong>Metabolic characterization of a woman homozygous for the ser113leu missense mutation in carnitine palmitoyl transferase II.</strong>
|
|
J. Clin. Endocr. Metab. 87: 2139-2143, 2002.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/11994355/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">11994355</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=11994355" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1210/jcem.87.5.8380" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="16" class="mim-anchor"></a>
|
|
<a id="Handig1996" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Handig, I., Dams, E., Taroni, F., Van Laere, S., de Barsy, T., Willems, P. J.
|
|
<strong>Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.</strong>
|
|
Hum. Genet. 97: 291-293, 1996.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8786066/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8786066</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8786066" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF02185756" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="17" class="mim-anchor"></a>
|
|
<a id="Herman1977" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Herman, J., Nadler, H. L.
|
|
<strong>Recurrent myoglobinuria and muscle carnitine palmityltransferase deficiency.</strong>
|
|
J. Pediat. 91: 247-250, 1977.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/874682/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">874682</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=874682" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(77)80821-4" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="18" class="mim-anchor"></a>
|
|
<a id="Hostetler1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Hostetler, K. Y., Hoppel, C. L., Romine, J. S., Sipe, J. C., Gross, S. R., Higginbottom, P. A.
|
|
<strong>Partial deficiency of muscle carnitine palmitoyltransferase with normal ketone production.</strong>
|
|
New Eng. J. Med. 298: 553-557, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/272487/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">272487</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=272487" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1056/NEJM197803092981007" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="19" class="mim-anchor"></a>
|
|
<a id="Kelly1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kelly, K. J., Garland, J. S., Tang, T. T., Shug, A. L., Chusid, M. J.
|
|
<strong>Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmitoyltransferase deficiency.</strong>
|
|
Pediatrics 84: 312-316, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2748260/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2748260</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2748260" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="20" class="mim-anchor"></a>
|
|
<a id="Kieval1989" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Kieval, R., Sotrel, A., Weinblatt, M. E.
|
|
<strong>Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme.</strong>
|
|
Arch. Neurol. 46: 575-576, 1989.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/2712755/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">2712755</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=2712755" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1001/archneur.1989.00520410111034" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="21" class="mim-anchor"></a>
|
|
<a id="Longo2006" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Longo, N., Amat di San Filippo, C., Pasquali, M.
|
|
<strong>Disorders of carnitine transport and the carnitine cycle.</strong>
|
|
Am. J. Med. Genet. 142C: 77-85, 2006.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/16602102/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">16602102</a>, <a href="https://www.ncbi.nlm.nih.gov/pmc/?term=16602102[PMID]&report=imagesdocsum" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Image', 'domain': 'ncbi.nlm.nih.gov'})">images</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=16602102" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ajmg.c.30087" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="22" class="mim-anchor"></a>
|
|
<a id="Meola1987" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Meola, G., Bresolin, N., Rimoldi, M., Velicogna, M., Fortunato, F., Scarlato, G.
|
|
<strong>Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets.</strong>
|
|
J. Neurol. 235: 74-79, 1987.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/3430194/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">3430194</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=3430194" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00718013" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="23" class="mim-anchor"></a>
|
|
<a id="Mongini1991" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Mongini, T., Doriguzzi, C., Palmucci, L., Chiado-Piat, L., Maniscalco, M., Schiffer, D.
|
|
<strong>Myoglobinuria and carnitine palmityl transferase deficiency in father and son.</strong>
|
|
J. Neurol. 238: 323-324, 1991.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/1940982/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">1940982</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=1940982" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1007/BF00315330" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="24" class="mim-anchor"></a>
|
|
<a id="Olpin2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Olpin, S. E., Afifi, A., Clark, S., Manning, N. J., Bonham, J. R., Dalton, A., Leonard, J. V., Land, J. M., Andresen, B. S., Morris, A. A., Muntoni, F., Turnbull, D., Pourfarzam, M., Rahman, S., Pollitt, R. J.
|
|
<strong>Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.</strong>
|
|
J. Inherit. Metab. Dis. 26: 543-557, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/14605500/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">14605500</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=14605500" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1023/a:1025947930752" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="25" class="mim-anchor"></a>
|
|
<a id="Orngreen2005" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J.
|
|
<strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong>
|
|
Ann. Neurol. 57: 60-66, 2005.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/15622536/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">15622536</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=15622536" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/ana.20320" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="26" class="mim-anchor"></a>
|
|
<a id="Reza1978" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Reza, M. J., Kar, N. C., Pearson, C. M., Kark, R. A. P.
|
|
<strong>Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency.</strong>
|
|
Ann. Intern. Med. 88: 610-615, 1978.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/646243/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">646243</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=646243" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.7326/0003-4819-88-5-610" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="27" class="mim-anchor"></a>
|
|
<a id="Scholte1979" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Scholte, H. R., Jennekens, F. G., Bouvy, J. J. B. J.
|
|
<strong>Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes.</strong>
|
|
J. Neurol. Sci. 40: 39-51, 1979.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/762593/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">762593</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=762593" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/0022-510x(79)90007-8" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="28" class="mim-anchor"></a>
|
|
<a id="Taroni1993" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Taroni, F., Verderio, E., Dworzak, F., Willems, P. J., Cavadini, P., DiDonato, S.
|
|
<strong>Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.</strong>
|
|
Nature Genet. 4: 314-320, 1993.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8358442/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8358442</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8358442" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1038/ng0793-314" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="29" class="mim-anchor"></a>
|
|
<a id="Tein1994" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Tein, I., Christodoulou, J., Donner, E., McInnes, R. R.
|
|
<strong>Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis.</strong>
|
|
J. Pediat. 124: 938-940, 1994.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/8201482/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">8201482</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=8201482" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1016/s0022-3476(05)83187-7" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="30" class="mim-anchor"></a>
|
|
<a id="Thuillier2003" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Thuillier, L., Rostane, H., Droin, V., Demaugre, F., Brivet, M., Kadhom, N., Prip-Buus, C., Gobin, S., Saudubray, J.-M., Bonnefont, J.-P.
|
|
<strong>Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.</strong>
|
|
Hum. Mutat. 21: 493-501, 2003.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/12673791/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">12673791</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=12673791" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1002/humu.10201" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
<li>
|
|
<a id="31" class="mim-anchor"></a>
|
|
<a id="Trevisan1984" class="mim-anchor"></a>
|
|
<div class="">
|
|
<p class="mim-text-font">
|
|
Trevisan, C. P., Angelini, C., Freddo, L., Isaya, G., Martinuzzi, A.
|
|
<strong>Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.</strong>
|
|
Neurology 34: 353-356, 1984.
|
|
|
|
|
|
[PubMed: <a href="https://pubmed.ncbi.nlm.nih.gov/6538275/" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">6538275</a>, <a href="https://pubmed.ncbi.nlm.nih.gov/?cmd=link&linkname=pubmed_pubmed&from_uid=6538275" target="_blank" onclick="gtag('event', 'mim_outbound', {'name': 'PubMed Related', 'domain': 'pubmed.ncbi.nlm.nih.gov'})">related citations</a>]
|
|
|
|
|
|
[<a href="https://doi.org/10.1212/wnl.34.3.353" target="_blank">Full Text</a>]
|
|
|
|
|
|
</p>
|
|
</div>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="contributors" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="mim-text-font">
|
|
<a href="#mimCollapseContributors" role="button" data-toggle="collapse"> Contributors: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 11/17/2021
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseContributors">
|
|
<div class="col-lg-offset-2 col-md-offset-4 col-sm-offset-4 col-xs-offset-2 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Carol A. Bocchini - updated : 12/29/2016<br>Ada Hamosh - updated : 3/12/2009<br>Cassandra L. Kniffin - updated : 6/17/2005<br>Cassandra L. Kniffin - updated : 5/10/2005<br>Cassandra L. Kniffin - reorganized : 8/23/2004<br>Cassandra L. Kniffin - updated : 8/19/2004<br>Ada Hamosh - updated : 9/22/2003<br>Orest Hurko - updated : 9/27/1995
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="creationDate" class="mim-anchor"></a>
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<a id="editHistory" class="mim-anchor"></a>
|
|
|
|
<div class="row">
|
|
<div class="col-lg-2 col-md-2 col-sm-4 col-xs-4">
|
|
<span class="text-nowrap mim-text-font">
|
|
<a href="#mimCollapseEditHistory" role="button" data-toggle="collapse"> Edit History: </a>
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 06/27/2022
|
|
</span>
|
|
</div>
|
|
</div>
|
|
<div class="row collapse" id="mimCollapseEditHistory">
|
|
<div class="col-lg-offset-2 col-md-offset-2 col-sm-offset-4 col-xs-offset-4 col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
alopez : 06/21/2022<br>carol : 11/17/2021<br>carol : 03/27/2017<br>carol : 12/29/2016<br>alopez : 09/16/2016<br>alopez : 03/18/2009<br>terry : 3/12/2009<br>carol : 8/1/2005<br>wwang : 7/1/2005<br>ckniffin : 6/17/2005<br>wwang : 5/13/2005<br>ckniffin : 5/10/2005<br>carol : 3/9/2005<br>tkritzer : 10/29/2004<br>carol : 8/23/2004<br>ckniffin : 8/19/2004<br>alopez : 9/22/2003<br>alopez : 4/17/2001<br>alopez : 4/17/2001<br>alopez : 4/17/2001<br>joanna : 5/8/1998<br>mimman : 2/8/1996<br>mark : 9/27/1995<br>mark : 7/14/1995<br>terry : 8/24/1994<br>carol : 9/23/1993<br>carol : 5/17/1993<br>carol : 9/30/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div class="container visible-print-block">
|
|
|
|
<div class="row">
|
|
|
|
|
|
|
|
<div class="col-md-8 col-md-offset-1">
|
|
|
|
<div>
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
<strong>#</strong> 255110
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
|
|
<div>
|
|
<h3>
|
|
<span class="mim-font">
|
|
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC, STRESS-INDUCED
|
|
|
|
</span>
|
|
</h3>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
<div>
|
|
<div >
|
|
<p>
|
|
<span class="mim-font">
|
|
<em>Alternative titles; symbols</em>
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, MYOPATHIC<br />
|
|
CARNITINE PALMITOYLTRANSFERASE II DEFICIENCY, ADULT-ONSET<br />
|
|
CPT II DEFICIENCY, MYOPATHIC<br />
|
|
CPT2 DEFICIENCY, LATE-ONSET
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<p>
|
|
<span class="mim-text-font">
|
|
|
|
|
|
|
|
|
|
<strong>ORPHA:</strong> 157, 228302;
|
|
|
|
|
|
<strong>DO:</strong> 0060235;
|
|
|
|
|
|
</span>
|
|
</p>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Phenotype-Gene Relationships</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<table class="table table-bordered table-condensed small mim-table-padding">
|
|
<thead>
|
|
<tr class="active">
|
|
<th>
|
|
Location
|
|
</th>
|
|
<th>
|
|
Phenotype
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> MIM number
|
|
</th>
|
|
<th>
|
|
Inheritance
|
|
</th>
|
|
<th>
|
|
Phenotype <br /> mapping key
|
|
</th>
|
|
<th>
|
|
Gene/Locus
|
|
</th>
|
|
<th>
|
|
Gene/Locus <br /> MIM number
|
|
</th>
|
|
</tr>
|
|
</thead>
|
|
<tbody>
|
|
|
|
<tr>
|
|
<td>
|
|
<span class="mim-font">
|
|
1p32.3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CPT II deficiency, myopathic, stress-induced
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
255110
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
Autosomal dominant; Autosomal recessive
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
3
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
CPT2
|
|
</span>
|
|
</td>
|
|
<td>
|
|
<span class="mim-font">
|
|
600650
|
|
</span>
|
|
</td>
|
|
</tr>
|
|
|
|
</tbody>
|
|
</table>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>TEXT</strong>
|
|
</span>
|
|
</h4>
|
|
|
|
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>A number sign (#) is used with this entry because the stress-induced myopathic form of carnitine palmitoyltransferase II (CPT II) deficiency is caused by homozygous or compound heterozygous mutation in the carnitine palmitoyltransferase II gene (CPT2; 600650) on chromosome 1p32. Some patients with heterozygous mutations in CPT2 have been reported.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Description</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Carnitine palmitoyltransferase II deficiency is an inherited disorder of mitochondrial long-chain fatty acid oxidation. The myopathic form presents most frequently in children or young adults with muscle pain with or, in most cases, without myoglobinuria with elevation of serum creatine kinase precipitated by strenuous exercise, cold, fever, or prolonged fasting. Severity of attacks is highly variable. Myoglobinuria can cause kidney failure and death (summary by Deschauer et al., 2005 and Longo et al., 2006). </p><p>See also the lethal neonatal (608836) and infantile (600649) forms of the disorder, which are also caused by mutation in the CPT2 gene.</p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Engel et al. (1970) reported 18-year-old identical twin sisters who experienced muscle aching with myoglobinuria, sometimes induced by exercise, from early childhood. Fasting, or high-fat low-carbohydrate isocaloric diet, induced muscle aches and a marked rise in serum muscle enzymes without associated ketonemia or ketonuria, suggesting a defect in an energy source to muscle. As administration of medium-chain triglycerides produced the expected normal ketonemia and ketonuria, Engel et al. (1970) postulated a defect in long-chain fatty acid utilization. Bressler (1970) suggested involvement of the carnitine system. </p><p>DiMauro and DiMauro (1973) reported a patient who likely had the same disorder as the twins of Engel et al. (1970). Three different methods detected very low activity of muscle carnitine palmitoyltransferase; the authors noted that deficiency of muscle carnitine palmitoyltransferase had been reported in children and young adults. Clinical features included recurrent attacks of myoglobinuria precipitated by prolonged exercise, especially after fasting, by cold exposure, or by stress; all conditions normally associated with an increased dependency of muscle on lipid metabolism. </p><p>Cumming et al. (1976) described a patient who had muscle cramps and myoglobinuria triggered by violent exercise after fasting and suppressed by a high-carbohydrate diet. Hostetler et al. (1978) reported a patient with recurrent myoglobinuria. Muscle metabolism of carbohydrates was normal. Prolonged fasting increased serum creatine phosphokinase levels. Plasma levels of free fatty acids, acetoacetate, and beta-hydroxybutyrate rose normally with fasting. A partial deficiency of carnitine palmitoyltransferase was found in muscle. Electron microscopy showed lipid droplets in the patient's muscle, and lipid analysis showed a 3-fold increase in triglycerides. Bank et al. (1975) described similar clinical features in 2 brothers who had increased plasma triglycerides and reduced ketone production despite high plasma free fatty acids. A low-fat diet of the type used for type I hyperlipoproteinemia (238600) was recommended, as caloric restriction may aggravate myoglobinuria. </p><p>DiDonato et al. (1978) reported a young man with CPT II deficiency who had reduced enzyme activity in muscle biopsy and in cultured fibroblasts, suggesting that it is a systemic rather than exclusively muscular condition. Scholte et al. (1979) described an otherwise healthy young man who had muscle pain and myoglobinuria after strenuous exercise. During fasting, serum creatine kinase remained low and ketogenesis was normal. Deficiency of CPT II was present in skeletal muscle and leukocytes, whereas CPT I activity was normal and showed normal kinetics. Skeletal muscle biopsy showed no abnormal lipid storage. </p><p>Bertorini et al. (1980) reported the unusual case of a man who had symptomatic onset of CPT deficiency at age 51 when infection precipitated acute respiratory failure and myoglobinuria. His parents were first cousins. At birth, he had required resuscitation, and severely impaired vision and mild bilateral spasticity led to a relatively sedentary life, which may have been responsible for his escape from earlier symptoms. At age 46 years, he had increased serum creatine phosphokinase of 1200 units (normal, 0-200) without obvious cause. Deficiency of CPT in muscle, leukocytes, and liver was documented at the time of his acute episodes at age 51 years. The liver enzyme defect explained the decreased production of ketone bodies during fasting, thus depriving the muscle of crucial sources of energy. Plasma ketone bodies rose normally when medium-chain triglycerides were administered. </p><p>Meola et al. (1987) demonstrated CPT deficiency in fibroblasts cultures from a patient with CPT deficiency. Similar studies of her parents and daughter showed intermediate enzyme levels, suggesting autosomal recessive inheritance. Kieval et al. (1989) reported a 17-year-boy with complete CPT deficiency (95% reduction in enzyme activity) who showed classic rhabdomyolysis precipitated by rigorous skiing. His mother, a presumed heterozygote, had partial CPT deficiency (enzyme activity 50% of normal) manifest as chronic myopathy with a 15-year history of lower limb muscle pain and stiffness, particularly following prolonged exercise. She had never experienced episodes of dark-colored urine, but leg weakness had been progressive. Examination showed proximal muscle weakness of the hip and shoulder girdles. </p><p>Kelly et al. (1989) reported a 13-year-old girl who developed severe rhabdomyolysis following an influenza B infection. Her course was complicated by episodes of hyperkalemia, hypocalcemia, hyperphosphatemia, myoglobinuria, renal failure, and lethal arrhythmia. Muscle biopsy showed CPT II deficiency. An asymptomatic sister was found to have the same disorder. Kelly et al. (1989) noted that phenotypic heterogeneity in CPT II deficiency may be due to differences in the extent of the enzymatic defect as well as to variable exposure to environmental factors such as prolonged exercise, cold, fasting, and infection. </p><p>Mongini et al. (1991) reported an 18-year-old man with classic late-onset CPT II deficiency characterized by recurrent myoglobinuria following exercise and fasting. His 53-year-old father had similar episodes, although his mother and elder brother were asymptomatic. The authors noted that the proband's parents originated from the same village in Italy with less than 1,000 inhabitants, and that the occurrence of the disorder in 2 generations showed 'quasidominant' inheritance. </p><p>In an 18-year-old female patient, Tein et al. (1994) described recurrent pancreatitis at the ages of 12 and 15 years, occurring after prolonged periods of exercise coupled with a high-fat diet. After the onset of recurrent myoglobinuria when she was 16 years old, deficiency of CPT II (32% residual activity) was established by study of cultured skin fibroblasts. Tein et al. (1994) concluded that CPT II deficiency can be a cause of pancreatitis and should be considered in the differential diagnosis, even in the absence of overt myoglobinuria. </p><p>Handig et al. (1996) reported a consanguineous CPT II deficient-family with 3 affected members who showed phenotypic variability. The proband, a male, suffered from a classic form of adult CPT II deficiency with recurrent rhabdomyolysis with myoglobinuria and serum creatine kinase levels up to more than 100,000 U/l. By contrast, a female cousin was almost asymptomatic and had never had episodes of acute muscular injury with rhabdomyolysis and myoglobinuria, although her affected sister had died at the age of 16 years during a severe attack of muscle injury. </p><p>Haap et al. (2002) performed a series of metabolic studies in a 43-year-old woman homozygous for the most common mutation in CPT II deficiency (S113L; 600650.0002). Compared with a female control group, the patient showed normal glucose tolerance but was severely insulin resistant; basal lipolysis was markedly reduced; and carbohydrate oxidation was maximally increased in the basal state and did not increase further during insulin stimulation. Conversely, lipid oxidation was virtually absent and did not decrease during insulin stimulation. Surprisingly, intramyocellular lipids were well within the range of the control group. The authors concluded that genetic CPT II deficiency is characterized by insulin resistance, which is not explained by increased intramyocellular lipids. Haap et al. (2002) concluded that the inability of skeletal muscle to oxidize long chain free fatty acids has far-reaching metabolic consequences, such as insulin resistance. </p><p>Olpin et al. (2003) noted that males comprise 88% of patients with myopathic CPT II deficiency. </p><p>Orngreen et al. (2005) used indirect calorimetry and stable isotope methodology to examine glucose and palmitate fuel utilization in patients with compound heterozygous and heterozygous mutations in the CPT2 gene. Patients with compound heterozygous mutations had normal long-chain fatty acid oxidation at rest, but severely impaired fatty acid oxidation during prolonged low-intensity exercise. Three individuals who were heterozygous for a single CPT2 mutation showed intermediate levels of impairment. The data indicated that the energy deficit in those with 2 CPT2 mutations was mitigated by enhanced muscle glycogenolysis. Residual CPT2 enzyme activity in fibroblasts ranged from 10 to 36% of normal controls in CPT II deficiency patients, and 46 to 65% in subjects with a single CPT2 mutation. The authors identified an E454X and a D213G CPT2 mutation (600650.0015 and 600650.0016) in 2 of the heterozygous patients who had reported myopathic symptoms with muscle cramping and rhabdomyolysis. Orngreen et al. (2005) concluded that some carriers of single CPT2 mutations may become symptomatic during exercise, which is consistent with a dominant-negative effect. </p><p>Deschauer et al. (2005) provided a review of the myopathic form of CPT II deficiency. In their series of 28 patients, exercise-induced myalgia was the most common symptom (96% of patients), whereas myoglobinuria was not found in 21% of patients. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Diagnosis</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Gempel et al. (2002) compared the tandem mass spectra of serum acylcarnitines of 9 CPT II-deficient patients to those of a cohort of 99 patients with other neuromuscular disorders and metabolic conditions. The spectra in CPT II deficiency showed characteristic elevations of palmitoylcarnitine and oleoylcarnitine, while acylcarnitine was not elevated. In their study, the ratio of palmitoylcarnitine and oleoylcarnitine to acylcarnitine detected all CPT II deficiencies and discriminated them from unspecific alterations of serum acylcarnitines. Gempel et al. (2002) suggested mass spectrometry of serum acylcarnitines as a rapid screening test that should be included early in the diagnostic work-up of patients with recurrent myoglobinuria, recurrent muscular weakness, and myalgia. </p><p>Fontaine et al. (2018) reported a method to diagnose CPT II in affected individuals by using pentadeuterated palmitate in patient whole blood to measure fatty acid oxidation flux. In 8 individuals with a history of rhabdomyolysis, nondiagnostic acylcarnitine profiles, and biallelic mutations in the CPT2 gene, Fontaine et al. (2018) found that the flux assay showed normal deuterated palmitoylcarnitine (C16-cn) formation but abnormal downstream deuterated metabolites, resulting in increased C16-cn to downstream deuterated metabolites, resulting in increased C16-cn to deuterated C2-cn to C14-cn ratios. Fontaine et al. (2018) concluded that this assay is useful in diagnosing CPT II and in assessing the pathogenicity of novel CPT2 variants. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Biochemical Features</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Elizondo et al. (2020) studied plasma acylcarnitine levels in 11 patients with CPT2 deficiency after an overnight fast, after a meal, and after exercise. After an overnight fast, the highest long chain acylcarnitine species level was 18:1. After a meal, the 18:1 level decreased by 61% and after exercise the 18:1 acylcarnitine increased by 223%, although the individual patient responses were variable. Elizondo et al. (2020) next correlated the sum of long chain acylcarnitines with free fatty acids to determine the contribution of lipolysis to long chain acylcarnitines after an overnight fast, after a meal, and after exercise in the 11 patients with CPT2 deficiency, 8 patients with VLCAD deficiency (201475), and 11 patients with LCHAD deficiency (609016). The free fatty acids correlated to total long chain acylcarnitines after overnight fasting but not after exercise, indicating that lipolysis is a significant contributor to acylcarnitine levels with fasting but not exercise. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Clinical Management</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>Bonnefont et al. (2009) found that bezafibrate, a commonly used hypolipidemic drug, restored the capacity for normal fatty acid oxidation in muscle cells in patients with a mild form of CPT2 deficiency by stimulating the expression of the mutated gene. They administered bezafibrate to 6 adults with mild CPT2 deficiency for 6 months at a dose of 3 200-mg tablets per day. The primary end point was the level of fatty acid oxidation in skeletal muscle. Mitochondria were isolated from muscle biopsy specimens obtained before and after treatment, and mitochondrial respiration rates were measured in the presence of palmitoyl L-carnitine, the specific substrate of CPT2. Before treatment, the palmitoyl L-carnitine oxidation levels were markedly reduced (by 21 to 54% of the normal value), reductions that were consistent with CPT2 deficiency. After bezafibrate treatment, the values increased significantly in the 6 patients (by 60 to 284%, P = 0.03). In addition, CPT2 mRNA in skeletal muscle increased in all the patients (by 20 to 93%, P = 0.002), as did the CPT2 protein level. In vitro analysis of myoblasts from the patients showed that the initial defect in fatty acid oxidation (49 to 75% of control values) was fully corrected after the cells had been exposed to bezafibrate (P = 0.002). There were 3 to 24 episodes of rhabdomyolysis per patient over a 6-month period before treatment and 0 to 6 episodes per patient during treatment. Quality of life questionnaires indicated less bodily pain and less limitation of physical activity. Bonnefont et al. (2009) suggested that the positive results of this pilot study warranted a larger clinical trial. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>Molecular Genetics</strong>
|
|
</span>
|
|
</h4>
|
|
</div>
|
|
|
|
|
|
|
|
<span class="mim-text-font">
|
|
<p>In 8 unrelated patients with familial recurrent hemoglobinuria and CPT II deficiency, Taroni et al. (1993) identified a homozygous mutation in the CPT2 gene (S113L; 600650.0002). One of the patients had been reported by DiDonato et al. (1978). Among a total of 25 patients with the disorder, Taroni et al. (1993) found the S113L mutation in 56% of the mutant CPT II alleles. Handig et al. (1996) identified homozygosity for the S113L mutation in 3 affected patients from a consanguineous family. </p><p>Deschauer et al. (2005) found the S113L mutation in 35 of 46 mutant CPT II alleles (76%). </p><p>Orngreen et al. (2005) reported a patient with stress-induced myopathic carnitine palmitoytransferase II deficiency who was heterozygous for a truncating mutation in the CPT2 gene (600650.0015). The patient had an episode of rhabdomyolysis after ingestion of alcohol and no food the night before a swimming practice. Residual CPT enzyme activity was 46% of control values, and biochemical studies indicated impaired fatty acid oxidation with prolonged exercise. </p>
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>See Also:</strong>
|
|
</span>
|
|
</h4>
|
|
<span class="mim-text-font">
|
|
Angelini et al. (1981); Di Donato et al. (1981); Herman and Nadler
|
|
(1977); Reza et al. (1978); Thuillier et al. (2003); Trevisan et al.
|
|
(1984)
|
|
</span>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<h4>
|
|
<span class="mim-font">
|
|
<strong>REFERENCES</strong>
|
|
</span>
|
|
</h4>
|
|
<div>
|
|
<p />
|
|
</div>
|
|
|
|
<div>
|
|
<ol>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Angelini, C., Freddo, L., Battistella, P., Bresolin, N., Pierobon-Bormioli, S., Armani, M., Vergani, L.
|
|
<strong>Carnitine palmityl transferase deficiency: clinical variability, carrier detection, and autosomal recessive inheritance.</strong>
|
|
Neurology 31: 883-886, 1981.
|
|
|
|
|
|
[PubMed: 7195512]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.31.7.883]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bank, W. J., DiMauro, S., Bonilla, E., Capuzzi, D. M., Rowland, L. P.
|
|
<strong>A disorder of muscle lipid metabolism and myoglobinuria: absence of carnitine palmityl transferase.</strong>
|
|
New Eng. J. Med. 292: 443-449, 1975.
|
|
|
|
|
|
[PubMed: 123038]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197502272920902]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bertorini, T., Yeh, Y. Y., Trevisan, C., Stadlan, E., Sabesin, S., DiMauro, S.
|
|
<strong>Carnitine palmityl transferase deficiency: myoglobinuria and respiratory failure.</strong>
|
|
Neurology 30: 263-271, 1980.
|
|
|
|
|
|
[PubMed: 7189025]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.30.3.263]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bonnefont, J.-P., Bastin, J., Behin, A., Djouadi, F.
|
|
<strong>Bezafibrate for an inborn mitochondrial beta-oxidation defect. (Letter)</strong>
|
|
New Eng. J. Med. 360: 838-840, 2009.
|
|
|
|
|
|
[PubMed: 19228633]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJMc0806334]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Bressler, R.
|
|
<strong>Carnitine and the twins. (Editorial)</strong>
|
|
New Eng. J. Med. 282: 745-746, 1970.
|
|
|
|
|
|
[PubMed: 5416207]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197003262821310]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Cumming, W. J. K., Hardy, M., Hudgson, P., Walls, J.
|
|
<strong>Carnitine palmitoyl transferase deficiency.</strong>
|
|
J. Neurol. Sci. 30: 247-258, 1976.
|
|
|
|
|
|
[PubMed: 187736]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0022-510x(76)90131-3]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Deschauer, M., Wieser, T., Zierz, S.
|
|
<strong>Muscle carnitine palmitoyltransferase II deficiency: clinical and molecular genetic features and diagnostic aspects.</strong>
|
|
Arch. Neurol. 62: 37-41, 2005.
|
|
|
|
|
|
[PubMed: 15642848]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.62.1.37]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Di Donato, S., Castiglione, A., Rimoldi, M., Cornelio, F., Vendemia, F., Cardace, G., Bertagnolio, B.
|
|
<strong>Heterogeneity of carnitine palmitoyltransferase deficiency.</strong>
|
|
J. Neurol. Sci. 50: 207-215, 1981.
|
|
|
|
|
|
[PubMed: 7229666]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0022-510x(81)90167-2]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
DiDonato, S., Cornelio, F., Pacini, L., Peluchetti, D., Rimoldi, M., Spreafico, S.
|
|
<strong>Muscle carnitine palmityltransferase deficiency: a case with enzyme deficiency in cultured fibroblasts.</strong>
|
|
Ann. Neurol. 4: 465-467, 1978.
|
|
|
|
|
|
[PubMed: 736528]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.410040513]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
DiMauro, S., DiMauro, P. M. M.
|
|
<strong>Muscle carnitine palmityl transferase deficiency and myoglobinuria.</strong>
|
|
Science 182: 929-931, 1973.
|
|
|
|
|
|
[PubMed: 4745596]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1126/science.182.4115.929]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Elizondo, G., Matern, D., Vockley, J., Harding, C. O., Gillingham, M. B.
|
|
<strong>Effects of fasting, feeding and exercise on plasma acylcarnitines among subjects with CPT2D, VLCADD and LCHADD/TFPD.</strong>
|
|
Molec. Genet. Metab. 131: 90-97, 2020.
|
|
|
|
|
|
[PubMed: 32928639]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2020.09.001]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Engel, W. K., Vick, N. A., Glueck, C. J., Levy, R. I.
|
|
<strong>A skeletal muscle disorder associated with intermittent symptoms and a possible defect of lipid metabolism.</strong>
|
|
New Eng. J. Med. 282: 697-704, 1970.
|
|
|
|
|
|
[PubMed: 5416202]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197003262821301]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Fontaine, M., Kim, I., Dessein, A.-F., Mention-Mulliez, K., Dobbelaere, D., Douillard, C., Sole, G., Schiff, M., Jaussaud, R., Espil-Taris, C., Boutron, A., Wuyts, W., Acquaviva, C., Vianey-Saban, C., Roland, D., Joncquel-Chevalier Curt, M., Vamecq, J.
|
|
<strong>Fluxomic assay-assisted diagnosis orientation in a cohort of 11 patients with myopathic form of CPT2 deficiency.</strong>
|
|
Molec. Genet. Metab. 123: 441-448, 2018.
|
|
|
|
|
|
[PubMed: 29478820]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/j.ymgme.2018.02.005]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Gempel, K., Kiechl, S., Hofmann, S., Lochmuller, H., Kiechl-Kohlendorfer, U., Willeit, J., Sperl, W., Rettinger, A., Bieger, I., Pongratz, D., Gerbitz, K. D., Bauer, M. F.
|
|
<strong>Screening for carnitine palmitoyltransferase II deficiency by tandem mass spectrometry.</strong>
|
|
J. Inherit. Metab. Dis. 25: 17-27, 2002.
|
|
|
|
|
|
[PubMed: 11999976]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1023/a:1015109127986]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Haap, M., Thamer, C., Machann, J., Tschritter, O., Loblein, K., Kellerer, M., Schick, F., Jacob, S., Haring, H.-U., Stumvoll, M.
|
|
<strong>Metabolic characterization of a woman homozygous for the ser113leu missense mutation in carnitine palmitoyl transferase II.</strong>
|
|
J. Clin. Endocr. Metab. 87: 2139-2143, 2002.
|
|
|
|
|
|
[PubMed: 11994355]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1210/jcem.87.5.8380]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Handig, I., Dams, E., Taroni, F., Van Laere, S., de Barsy, T., Willems, P. J.
|
|
<strong>Inheritance of the S113L mutation within an inbred family with carnitine palmitoyltransferase enzyme deficiency.</strong>
|
|
Hum. Genet. 97: 291-293, 1996.
|
|
|
|
|
|
[PubMed: 8786066]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF02185756]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Herman, J., Nadler, H. L.
|
|
<strong>Recurrent myoglobinuria and muscle carnitine palmityltransferase deficiency.</strong>
|
|
J. Pediat. 91: 247-250, 1977.
|
|
|
|
|
|
[PubMed: 874682]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(77)80821-4]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Hostetler, K. Y., Hoppel, C. L., Romine, J. S., Sipe, J. C., Gross, S. R., Higginbottom, P. A.
|
|
<strong>Partial deficiency of muscle carnitine palmitoyltransferase with normal ketone production.</strong>
|
|
New Eng. J. Med. 298: 553-557, 1978.
|
|
|
|
|
|
[PubMed: 272487]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1056/NEJM197803092981007]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kelly, K. J., Garland, J. S., Tang, T. T., Shug, A. L., Chusid, M. J.
|
|
<strong>Fatal rhabdomyolysis following influenza infection in a girl with familial carnitine palmitoyltransferase deficiency.</strong>
|
|
Pediatrics 84: 312-316, 1989.
|
|
|
|
|
|
[PubMed: 2748260]
|
|
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Kieval, R., Sotrel, A., Weinblatt, M. E.
|
|
<strong>Chronic myopathy with a partial deficiency of the carnitine palmityltransferase enzyme.</strong>
|
|
Arch. Neurol. 46: 575-576, 1989.
|
|
|
|
|
|
[PubMed: 2712755]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1001/archneur.1989.00520410111034]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Longo, N., Amat di San Filippo, C., Pasquali, M.
|
|
<strong>Disorders of carnitine transport and the carnitine cycle.</strong>
|
|
Am. J. Med. Genet. 142C: 77-85, 2006.
|
|
|
|
|
|
[PubMed: 16602102]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ajmg.c.30087]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Meola, G., Bresolin, N., Rimoldi, M., Velicogna, M., Fortunato, F., Scarlato, G.
|
|
<strong>Recessive carnitine palmityl transferase deficiency: biochemical studies in tissue cultures and platelets.</strong>
|
|
J. Neurol. 235: 74-79, 1987.
|
|
|
|
|
|
[PubMed: 3430194]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00718013]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Mongini, T., Doriguzzi, C., Palmucci, L., Chiado-Piat, L., Maniscalco, M., Schiffer, D.
|
|
<strong>Myoglobinuria and carnitine palmityl transferase deficiency in father and son.</strong>
|
|
J. Neurol. 238: 323-324, 1991.
|
|
|
|
|
|
[PubMed: 1940982]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1007/BF00315330]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Olpin, S. E., Afifi, A., Clark, S., Manning, N. J., Bonham, J. R., Dalton, A., Leonard, J. V., Land, J. M., Andresen, B. S., Morris, A. A., Muntoni, F., Turnbull, D., Pourfarzam, M., Rahman, S., Pollitt, R. J.
|
|
<strong>Mutation and biochemical analysis in carnitine palmitoyltransferase type II (CPT II) deficiency.</strong>
|
|
J. Inherit. Metab. Dis. 26: 543-557, 2003.
|
|
|
|
|
|
[PubMed: 14605500]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1023/a:1025947930752]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Orngreen, M. C., Duno, M., Ejstrup, R., Christensen, E., Schwartz, M., Sacchetti, M., Vissing, J.
|
|
<strong>Fuel utilization in subjects with carnitine palmitoyltransferase 2 gene mutations.</strong>
|
|
Ann. Neurol. 57: 60-66, 2005.
|
|
|
|
|
|
[PubMed: 15622536]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/ana.20320]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Reza, M. J., Kar, N. C., Pearson, C. M., Kark, R. A. P.
|
|
<strong>Recurrent myoglobinuria due to muscle carnitine palmityl transferase deficiency.</strong>
|
|
Ann. Intern. Med. 88: 610-615, 1978.
|
|
|
|
|
|
[PubMed: 646243]
|
|
|
|
|
|
[Full Text: https://doi.org/10.7326/0003-4819-88-5-610]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Scholte, H. R., Jennekens, F. G., Bouvy, J. J. B. J.
|
|
<strong>Carnitine palmitoyltransferase II deficiency with normal carnitine palmitoyltransferase I in skeletal muscle and leucocytes.</strong>
|
|
J. Neurol. Sci. 40: 39-51, 1979.
|
|
|
|
|
|
[PubMed: 762593]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/0022-510x(79)90007-8]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Taroni, F., Verderio, E., Dworzak, F., Willems, P. J., Cavadini, P., DiDonato, S.
|
|
<strong>Identification of a common mutation in the carnitine palmitoyltransferase II gene in familial recurrent myoglobinuria patients.</strong>
|
|
Nature Genet. 4: 314-320, 1993.
|
|
|
|
|
|
[PubMed: 8358442]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1038/ng0793-314]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Tein, I., Christodoulou, J., Donner, E., McInnes, R. R.
|
|
<strong>Carnitine palmitoyltransferase II deficiency: a new cause of recurrent pancreatitis.</strong>
|
|
J. Pediat. 124: 938-940, 1994.
|
|
|
|
|
|
[PubMed: 8201482]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1016/s0022-3476(05)83187-7]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Thuillier, L., Rostane, H., Droin, V., Demaugre, F., Brivet, M., Kadhom, N., Prip-Buus, C., Gobin, S., Saudubray, J.-M., Bonnefont, J.-P.
|
|
<strong>Correlation between genotype, metabolic data, and clinical presentation in carnitine palmitoyltransferase 2 (CPT2) deficiency.</strong>
|
|
Hum. Mutat. 21: 493-501, 2003.
|
|
|
|
|
|
[PubMed: 12673791]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1002/humu.10201]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
<li>
|
|
<p class="mim-text-font">
|
|
Trevisan, C. P., Angelini, C., Freddo, L., Isaya, G., Martinuzzi, A.
|
|
<strong>Myoglobinuria and carnitine palmityltransferase (CPT) deficiency: studies with malonyl-CoA suggest absence of only CPT-II.</strong>
|
|
Neurology 34: 353-356, 1984.
|
|
|
|
|
|
[PubMed: 6538275]
|
|
|
|
|
|
[Full Text: https://doi.org/10.1212/wnl.34.3.353]
|
|
|
|
|
|
</p>
|
|
</li>
|
|
|
|
</ol>
|
|
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Contributors:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Hilary J. Vernon - updated : 11/17/2021<br>Carol A. Bocchini - updated : 12/29/2016<br>Ada Hamosh - updated : 3/12/2009<br>Cassandra L. Kniffin - updated : 6/17/2005<br>Cassandra L. Kniffin - updated : 5/10/2005<br>Cassandra L. Kniffin - reorganized : 8/23/2004<br>Cassandra L. Kniffin - updated : 8/19/2004<br>Ada Hamosh - updated : 9/22/2003<br>Orest Hurko - updated : 9/27/1995
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Creation Date:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
Victor A. McKusick : 6/4/1986
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div>
|
|
<div class="row">
|
|
<div class="col-lg-1 col-md-1 col-sm-2 col-xs-2">
|
|
<span class="text-nowrap mim-text-font">
|
|
Edit History:
|
|
</span>
|
|
</div>
|
|
<div class="col-lg-6 col-md-6 col-sm-6 col-xs-6">
|
|
<span class="mim-text-font">
|
|
carol : 06/27/2022<br>alopez : 06/21/2022<br>carol : 11/17/2021<br>carol : 03/27/2017<br>carol : 12/29/2016<br>alopez : 09/16/2016<br>alopez : 03/18/2009<br>terry : 3/12/2009<br>carol : 8/1/2005<br>wwang : 7/1/2005<br>ckniffin : 6/17/2005<br>wwang : 5/13/2005<br>ckniffin : 5/10/2005<br>carol : 3/9/2005<br>tkritzer : 10/29/2004<br>carol : 8/23/2004<br>ckniffin : 8/19/2004<br>alopez : 9/22/2003<br>alopez : 4/17/2001<br>alopez : 4/17/2001<br>alopez : 4/17/2001<br>joanna : 5/8/1998<br>mimman : 2/8/1996<br>mark : 9/27/1995<br>mark : 7/14/1995<br>terry : 8/24/1994<br>carol : 9/23/1993<br>carol : 5/17/1993<br>carol : 9/30/1992
|
|
</span>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div>
|
|
<br />
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
<div id="mimFooter">
|
|
|
|
|
|
<div class="container ">
|
|
<div class="row">
|
|
<br />
|
|
<br />
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="hidden-print mim-footer">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
<div class="visible-print-block mim-footer" style="position: relative;">
|
|
<div class="container">
|
|
<div class="row">
|
|
<p />
|
|
</div>
|
|
<div class="row text-center small">
|
|
NOTE: OMIM is intended for use primarily by physicians and other professionals concerned with genetic disorders, by genetics researchers,
|
|
and by advanced students in science and medicine. While the OMIM database is open to the public, users seeking information about a personal
|
|
medical or genetic condition are urged to consult with a qualified physician for diagnosis and for answers to personal questions.
|
|
<br />
|
|
OMIM<sup>®</sup> and Online Mendelian Inheritance in Man<sup>®</sup> are registered trademarks of the Johns Hopkins University.
|
|
<br />
|
|
Copyright<sup>®</sup> 1966-2025 Johns Hopkins University.
|
|
<br />
|
|
Printed: March 5, 2025
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
|
|
<div class="modal fade" id="mimDonationPopupModal" tabindex="-1" role="dialog" aria-labelledby="mimDonationPopupModalTitle">
|
|
<div class="modal-dialog" role="document">
|
|
<div class="modal-content">
|
|
<div class="modal-header">
|
|
<button type="button" id="mimDonationPopupCancel" class="close" data-dismiss="modal" aria-label="Close"><span aria-hidden="true">×</span></button>
|
|
<h4 class="modal-title" id="mimDonationPopupModalTitle">
|
|
OMIM Donation:
|
|
</h4>
|
|
</div>
|
|
<div class="modal-body">
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Dear OMIM User,
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
To ensure long-term funding for the OMIM project, we have diversified
|
|
our revenue stream. We are determined to keep this website freely
|
|
accessible. Unfortunately, it is not free to produce. Expert curators
|
|
review the literature and organize it to facilitate your work. Over 90%
|
|
of the OMIM's operating expenses go to salary support for MD and PhD
|
|
science writers and biocurators. Please join your colleagues by making a
|
|
donation now and again in the future. Donations are an important
|
|
component of our efforts to ensure long-term funding to provide you the
|
|
information that you need at your fingertips.
|
|
</p>
|
|
</div>
|
|
</div>
|
|
<div class="row">
|
|
<div class="col-lg-offset-1 col-md-offset-1 col-sm-offset-1 col-xs-offset-1 col-lg-10 col-md-10 col-sm-10 col-xs-10">
|
|
<p>
|
|
Thank you in advance for your generous support, <br />
|
|
Ada Hamosh, MD, MPH <br />
|
|
Scientific Director, OMIM <br />
|
|
</p>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="modal-footer">
|
|
<button type="button" id="mimDonationPopupDonate" class="btn btn-success btn-block" data-dismiss="modal"> Donate To OMIM! </button>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
</div>
|
|
|
|
|
|
|
|
</div>
|
|
</body>
|
|
|
|
</html>
|
|
|
|
|