146 lines
No EOL
12 KiB
XML
146 lines
No EOL
12 KiB
XML
<?xml version="1.0" encoding="utf-8"?>
|
|
<!DOCTYPE html PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3.org/TR/xhtml1/DTD/xhtml1-transitional.dtd">
|
|
<html xmlns="http://www.w3.org/1999/xhtml" xml:lang="en" lang="en">
|
|
|
|
<head><meta http-equiv="Content-Type" content="text/html; charset=utf-8" />
|
|
<!-- AppResources meta begin -->
|
|
<meta name="paf-app-resources" content="" />
|
|
<script type="text/javascript">var ncbi_startTime = new Date();</script>
|
|
|
|
<!-- AppResources meta end -->
|
|
|
|
<!-- TemplateResources meta begin -->
|
|
<meta name="paf_template" content="" />
|
|
|
|
<!-- TemplateResources meta end -->
|
|
|
|
<!-- Logger begin -->
|
|
<meta name="ncbi_db" content="books" /><meta name="ncbi_pdid" content="book-part" /><meta name="ncbi_acc" content="NBK22259" /><meta name="ncbi_domain" content="gnd" /><meta name="ncbi_report" content="printable" /><meta name="ncbi_type" content="fulltext" /><meta name="ncbi_objectid" content="" /><meta name="ncbi_pcid" content="/NBK22259/?report=printable" /><meta name="ncbi_app" content="bookshelf" />
|
|
<!-- Logger end -->
|
|
|
|
<title>Nutritional and Metabolic Diseases - Genes and Disease - NCBI Bookshelf</title>
|
|
|
|
<!-- AppResources external_resources begin -->
|
|
<link rel="stylesheet" href="/core/jig/1.15.2/css/jig.min.css" /><script type="text/javascript" src="/core/jig/1.15.2/js/jig.min.js"></script>
|
|
|
|
<!-- AppResources external_resources end -->
|
|
|
|
<!-- Page meta begin -->
|
|
<meta name="robots" content="INDEX,FOLLOW,NOARCHIVE" /><meta name="citation_inbook_title" content="Genes and Disease [Internet]" /><meta name="citation_title" content="Nutritional and Metabolic Diseases" /><meta name="citation_publisher" content="National Center for Biotechnology Information (US)" /><meta name="citation_date" content="1998" /><meta name="citation_author" content="National Center for Biotechnology Information (US)" /><meta name="citation_fulltext_html_url" content="https://www.ncbi.nlm.nih.gov/books/NBK22259/" /><link rel="schema.DC" href="http://purl.org/DC/elements/1.0/" /><meta name="DC.Title" content="Nutritional and Metabolic Diseases" /><meta name="DC.Type" content="Text" /><meta name="DC.Publisher" content="National Center for Biotechnology Information (US)" /><meta name="DC.Contributor" content="National Center for Biotechnology Information (US)" /><meta name="DC.Date" content="1998" /><meta name="DC.Identifier" content="https://www.ncbi.nlm.nih.gov/books/NBK22259/" /><meta name="description" content="Metabolism is the means by which the body derives energy and synthesizes the other molecules it needs from the fats, carbohydrates and proteins we eat as food, by enzymatic reactions helped by minerals and vitamins." /><meta name="og:title" content="Nutritional and Metabolic Diseases" /><meta name="og:type" content="book" /><meta name="og:description" content="Metabolism is the means by which the body derives energy and synthesizes the other molecules it needs from the fats, carbohydrates and proteins we eat as food, by enzymatic reactions helped by minerals and vitamins." /><meta name="og:url" content="https://www.ncbi.nlm.nih.gov/books/NBK22259/" /><meta name="og:site_name" content="NCBI Bookshelf" /><meta name="og:image" content="https://www.ncbi.nlm.nih.gov/corehtml/pmc/pmcgifs/bookshelf/thumbs/th-gnd-lrg.png" /><meta name="twitter:card" content="summary" /><meta name="twitter:site" content="@ncbibooks" /><meta name="bk-non-canon-loc" content="/books/n/gnd/A86/" /><link rel="canonical" href="https://www.ncbi.nlm.nih.gov/books/NBK22259/" /><link rel="stylesheet" href="/corehtml/pmc/css/figpopup.css" type="text/css" media="screen" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books.min.css" type="text/css" /><link rel="stylesheet" href="/corehtml/pmc/css/bookshelf/2.26/css/books_print.min.css" type="text/css" /><style type="text/css">p a.figpopup{display:inline !important} .bk_tt {font-family: monospace} .first-line-outdent .bk_ref {display: inline} </style><script type="text/javascript" src="/corehtml/pmc/js/jquery.hoverIntent.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/common.min.js?_=3.18"> </script><script type="text/javascript">window.name="mainwindow";</script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/book-toc.min.js"> </script><script type="text/javascript" src="/corehtml/pmc/js/bookshelf/2.26/books.min.js"> </script>
|
|
|
|
<!-- Page meta end -->
|
|
<link rel="shortcut icon" href="//www.ncbi.nlm.nih.gov/favicon.ico" /><meta name="ncbi_phid" content="CE8DD6427C8B66810000000000A60089.m_5" />
|
|
<meta name='referrer' content='origin-when-cross-origin'/><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/css/3852956/3985586/3808861/4121862/3974050/3917732/251717/4216701/14534/45193/4113719/3849091/3984811/3751656/4033350/3840896/3577051/3852958/3984801/12930/3964959.css" /><link type="text/css" rel="stylesheet" href="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/css/3411343/3882866.css" media="print" /></head>
|
|
<body class="book-part">
|
|
<div class="grid no_max_width">
|
|
<div class="col twelve_col nomargin shadow">
|
|
<!-- System messages like service outage or JS required; this is handled by the TemplateResources portlet -->
|
|
<div class="sysmessages">
|
|
<noscript>
|
|
<p class="nojs">
|
|
<strong>Warning:</strong>
|
|
The NCBI web site requires JavaScript to function.
|
|
<a href="/guide/browsers/#enablejs" title="Learn how to enable JavaScript" target="_blank">more...</a>
|
|
</p>
|
|
</noscript>
|
|
</div>
|
|
<!--/.sysmessage-->
|
|
<div class="wrap">
|
|
<div class="page">
|
|
<div class="top">
|
|
|
|
<div class="header">
|
|
|
|
|
|
</div>
|
|
|
|
|
|
|
|
<!--<component id="Page" label="headcontent"/>-->
|
|
|
|
</div>
|
|
<div class="content">
|
|
<!-- site messages -->
|
|
<div class="container content">
|
|
<div class="document">
|
|
<div class="pre-content"><div><div class="bk_prnt"><p class="small">NCBI Bookshelf. A service of the National Library of Medicine, National Institutes of Health.</p><p>National Center for Biotechnology Information (US). Genes and Disease [Internet]. Bethesda (MD): National Center for Biotechnology Information (US); 1998-. </p></div></div></div>
|
|
<div class="main-content lit-style" itemscope="itemscope" itemtype="http://schema.org/CreativeWork"><div class="meta-content fm-sec"><h1 id="_NBK22259_"><span class="title" itemprop="name">Nutritional and Metabolic Diseases</span></h1></div><div class="body-content whole_rhythm" itemprop="text"><div id="_abs_rndgid_" itemprop="description"><div class="graphic"><img src="/books/NBK22259/bin/Metabolism.jpg" alt="Image Metabolism.jpg" /></div><p>Metabolism is the means by which the body derives energy and synthesizes the other molecules it needs from the fats, carbohydrates and proteins we eat as food, by enzymatic reactions helped by minerals and vitamins. </p><p>This global statement masks the complicated network of enzyme- catalyzed reactions that occurs in cells. Although this page is devoted to diseases caused by errors in metabolic processes, there is actually a significant level of tolerance of errors in the system: often, a mutation in one enzyme does not mean that the individual will suffer from a disease. A number of different enzymes may compete to modify the same molecule, and there may be more than one way to achieve the same end result for a variety of metabolic intermediates. Disease will only occur if a critical enzyme is disabled, or if a control mechanism for a metabolic pathway is affected.</p><p>Here, we highlight the diseases of metabolism for which a gene has been identified, cloned and mapped. Many of these are inborn errors of metabolism: inherited traits that are due to a mutation in a metabolic enzyme; others involve mutations in regulatory proteins and in transport mechanisms.</p></div><div id="A86.diseases"><h2 id="_A86_diseases_">Diseases</h2><ul class="simple-list"><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/adrenoleukodystrophy/">Adrenoleukodystrophy</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/diabetestype1/">Diabetes, type 1</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/gaucherdisease/">Gaucher disease</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/glucosegalactosemalabsorption/">Glucose galactose malabsorption</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/hereditaryhemochromatosis/">Hereditary hemochromatosis</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/leschnyhansyndrome/">Lesch-Nyhan syndrome</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/maplesyrupurinedisease/">Maple syrup urine disease</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/menkessyndrome/">Menkes syndrome</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/niemannpickdisease/">Niemann-Pick disease</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/obesity/">Obesity</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/pancreaticcancer/">Pancreatic cancer</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/phenylketonuria/">Phenylketonuria</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/praderwillisyndrome/">Prader-Willi syndrome</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/porphyria/">Porphyria</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/refsumdisease/">Refsum disease</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/tangierdisease/">Tangier disease</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/taysachsdisease/">Tay-Sachs disease</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/wilsonsdisease/">Wilson's disease</a>
|
|
</div></li><li class="half_rhythm"><div>
|
|
<a href="/books/n/gnd/zellwegersyndrome/">Zellweger syndrome</a>
|
|
</div></li></ul></div><div id="bk_toc_contnr"></div></div></div>
|
|
<div class="post-content"><div><div class="half_rhythm"><a href="/books/about/copyright/">Copyright Notice</a></div><div class="small"><span class="label">Bookshelf ID: NBK22259</span></div><div style="margin-top:2em" class="bk_noprnt"><a class="bk_cntns" href="/books/n/gnd/">Contents</a><div class="pagination bk_noprnt"><a class="active page_link prev" href="/books/n/gnd/A75/" title="Previous page in this title">< Prev</a><a class="active page_link next" href="/books/n/gnd/A88/" title="Next page in this title">Next ></a></div></div></div></div>
|
|
|
|
</div>
|
|
</div>
|
|
</div>
|
|
<div class="bottom">
|
|
|
|
<div id="NCBIFooter_dynamic">
|
|
<!--<component id="Breadcrumbs" label="breadcrumbs"/>
|
|
<component id="Breadcrumbs" label="helpdesk"/>-->
|
|
|
|
</div>
|
|
|
|
<script type="text/javascript" src="/portal/portal3rc.fcgi/rlib/js/InstrumentNCBIBaseJS/InstrumentPageStarterJS.js"> </script>
|
|
</div>
|
|
</div>
|
|
<!--/.page-->
|
|
</div>
|
|
<!--/.wrap-->
|
|
</div><!-- /.twelve_col -->
|
|
</div>
|
|
<!-- /.grid -->
|
|
|
|
<span class="PAFAppResources"></span>
|
|
|
|
<!-- BESelector tab -->
|
|
|
|
|
|
|
|
<noscript><img alt="statistics" src="/stat?jsdisabled=true&ncbi_db=books&ncbi_pdid=book-part&ncbi_acc=NBK22259&ncbi_domain=gnd&ncbi_report=printable&ncbi_type=fulltext&ncbi_objectid=&ncbi_pcid=/NBK22259/?report=printable&ncbi_app=bookshelf" /></noscript>
|
|
|
|
|
|
<!-- usually for JS scripts at page bottom -->
|
|
<!--<component id="PageFixtures" label="styles"></component>-->
|
|
|
|
|
|
<!-- CE8B5AF87C7FFCB1_0191SID /projects/books/PBooks@9.11 portal106 v4.1.r689238 Tue, Oct 22 2024 16:10:51 -->
|
|
<span id="portal-csrf-token" style="display:none" data-token="CE8B5AF87C7FFCB1_0191SID"></span>
|
|
|
|
<script type="text/javascript" src="//static.pubmed.gov/portal/portal3rc.fcgi/4216699/js/3879255/4121861/3501987/4008961/3893018/3821238/3400083/3426610.js" snapshot="books"></script></body>
|
|
</html> |