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<!--
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||
UID=6323
|
||
ConceptID=C0025521
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Inborn errors of metabolism</div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6323</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier from NLM's Unified Medical Language system (UMLS) Click for more information.">C0025521</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonym:</td>
|
||
<td>Inborn error of metabolism</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>IBEM - Inborn error of metabolism (86095007); IEM - Inborn error of metabolism (86095007); Inborn error of metabolism (86095007)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0019052" target="_blank">MONDO:0019052</a></td></tr>
|
||
<tr><td>Orphanet:</td>
|
||
<td><a target="_blank" title="Orphanet: The portal for rare diseases and orphan drugs" href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=68367">ORPHA68367</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">A group of disorders present at birth that involve genetic defects leading to disturbances in carbohydrate, lipid, lysosomal storage or amino acid metabolism in the body. [from <a title="NCI Thesaurus" href="http://ncit.nci.nih.gov" class="defSource" target="_blank">NCI</a>]</div>
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</div>
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<div class="portlet mgSection" id="ID_118">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li></ul><div id="tabGTR"><div class="search_result"><div class="rprts"><div class="chiclet_legend"><span class="chiclet_list" style="position:static;"><span title="Clinical test" class="chiclet Ccolor round">C</span><span>Clinical test, </span><span title="Research test" class="chiclet Rcolor round">R</span><span>Research test, </span><span title="OMIM" class="chiclet Ocolor ">O</span><span>OMIM, </span><span title="GeneReview" class="chiclet Gcolor">G</span><span><em>GeneReviews</em>, </span><span title="ClinVar" class="chiclet Vcolor">V</span><span>ClinVar </span></span></div><div id="hierarchy" class="margin_t1"><div class="ds_tree"><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0025521[DISCUI]&test_type=Clinical" ref="ncbi_uid=6323">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet unavailable" title="GeneReviews">G</span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6323" ref="ncbi_uid=6323">V</a></span></span><span class="TLline">Inborn errors of metabolism</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/14319" ref="tree=MeSH" title="MedGen record for Congenital, Hereditary, and Neonatal Diseases and Abnormalities">Congenital, Hereditary, and Neonatal Diseases and Abnormalities</a></span><ul><li><span class="TLline"><a href="/medgen/181981" ref="tree=MeSH" title="MedGen record for Inborn genetic diseases">Inborn genetic diseases</a></span><ul><li><span class="matched_ds">Inborn errors of metabolism</span><ul><li><span class="TLline"><a href="/medgen/412535" ref="tree=MeSH" title="MedGen record for 2-hydroxyglutaric aciduria">2-hydroxyglutaric aciduria</a></span><ul><li><span class="TLline"><a href="/medgen/1802316" ref="tree=MeSH" title="MedGen record for D,L-2-hydroxyglutaric aciduria">D,L-2-hydroxyglutaric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/322192" ref="tree=MeSH" title="MedGen record for D-2-hydroxyglutaric aciduria">D-2-hydroxyglutaric aciduria</a></span></li><li><span class="TLline"><a href="/medgen/341029" ref="tree=MeSH" title="MedGen record for L-2-hydroxyglutaric aciduria">L-2-hydroxyglutaric aciduria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/199725" ref="tree=MeSH" title="MedGen record for Amino Acid Transport Disorders, Inborn">Amino Acid Transport Disorders, Inborn</a></span><ul><li><span class="TLline"><a href="/medgen/18145" ref="tree=MeSH" title="MedGen record for Lowe syndrome">Lowe syndrome</a></span></li><li><span class="TLline"><a href="/medgen/6723" ref="tree=MeSH" title="MedGen record for Neutral 1 amino acid transport defect">Neutral 1 amino acid transport defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66323" ref="tree=MeSH" title="MedGen record for Biotinidase deficiency">Biotinidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/156005" ref="tree=MeSH" title="MedGen record for Brain Diseases, Metabolic, Inborn">Brain Diseases, Metabolic, Inborn</a></span><ul><li><span class="TLline"><a href="/medgen/57667" ref="tree=MeSH" title="MedGen record for Adrenoleukodystrophy">Adrenoleukodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/315918" ref="tree=MeSH" title="MedGen record for Adrenomyeloneuropathy">Adrenomyeloneuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1641046" ref="tree=MeSH" title="MedGen record for Cerebral Adrenoleukodystrophy">Cerebral Adrenoleukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1708324" ref="tree=MeSH" title="MedGen record for X-linked cerebral adrenoleukodystrophy">X-linked cerebral adrenoleukodystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/87453" ref="tree=MeSH" title="MedGen record for Deficiency of mevalonate kinase">Deficiency of mevalonate kinase</a></span><ul><li><span class="TLline"><a href="/medgen/140768" ref="tree=MeSH" title="MedGen record for Hyperimmunoglobulin D with periodic fever">Hyperimmunoglobulin D with periodic fever</a></span></li><li><span class="TLline"><a href="/medgen/368373" ref="tree=MeSH" title="MedGen record for Mevalonic aciduria">Mevalonic aciduria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/57586" ref="tree=MeSH" title="MedGen record for Disorder of the urea cycle metabolism">Disorder of the urea cycle metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/78688" ref="tree=MeSH" title="MedGen record for Arginase deficiency">Arginase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/78687" ref="tree=MeSH" title="MedGen record for Argininosuccinate lyase deficiency">Argininosuccinate lyase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/199727" ref="tree=MeSH" title="MedGen record for Carbamoyl-phosphate synthetase 1 deficiency">Carbamoyl-phosphate synthetase 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/104491" ref="tree=MeSH" title="MedGen record for Citrullinemia">Citrullinemia</a></span></li><li><span class="TLline"><a href="/medgen/907954" ref="tree=MeSH" title="MedGen record for Congenital hyperammonemia, type I">Congenital hyperammonemia, type I</a></span></li><li><span class="TLline"><a href="/medgen/120649" ref="tree=MeSH" title="MedGen record for Hyperammonemia, type III">Hyperammonemia, type III</a></span></li><li><span class="TLline"><a href="/medgen/816734" ref="tree=MeSH" title="MedGen record for Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency">Hyperammonemic encephalopathy due to carbonic anhydrase VA deficiency</a></span></li><li><span class="TLline"><a href="/medgen/376153" ref="tree=MeSH" title="MedGen record for Hyperinsulinism-hyperammonemia syndrome">Hyperinsulinism-hyperammonemia syndrome</a></span></li><li><span class="TLline"><a href="/medgen/82815" ref="tree=MeSH" title="MedGen record for Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome">Hyperornithinemia-hyperammonemia-homocitrullinuria syndrome</a></span></li><li><span class="TLline"><a href="/medgen/75692" ref="tree=MeSH" title="MedGen record for Ornithine carbamoyltransferase deficiency">Ornithine carbamoyltransferase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8943" ref="tree=MeSH" title="MedGen record for Galactosemia">Galactosemia</a></span><ul><li><span class="TLline"><a href="/medgen/120614" ref="tree=MeSH" title="MedGen record for Deficiency of galactokinase">Deficiency of galactokinase</a></span></li><li><span class="TLline"><a href="/medgen/82777" ref="tree=MeSH" title="MedGen record for Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase">Deficiency of UDPglucose-hexose-1-phosphate uridylyltransferase</a></span></li><li><span class="TLline"><a href="/medgen/1718159" ref="tree=MeSH" title="MedGen record for Galactosemia 4">Galactosemia 4</a></span></li><li><span class="TLline"><a href="/medgen/443018" ref="tree=MeSH" title="MedGen record for Transferase Deficiency Galactosemia">Transferase Deficiency Galactosemia</a></span></li><li><span class="TLline"><a href="/medgen/199598" ref="tree=MeSH" title="MedGen record for UDPglucose-4-epimerase deficiency">UDPglucose-4-epimerase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/155625" ref="tree=MeSH" title="MedGen record for Glycine encephalopathy">Glycine encephalopathy</a></span><ul><li><span class="TLline"><a href="/medgen/934910" ref="tree=MeSH" title="MedGen record for Atypical glycine encephalopathy">Atypical glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1781124" ref="tree=MeSH" title="MedGen record for Infantile glycine encephalopathy">Infantile glycine encephalopathy</a></span></li><li><span class="TLline"><a href="/medgen/1785446" ref="tree=MeSH" title="MedGen record for Neonatal glycine encephalopathy">Neonatal glycine encephalopathy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/148407" ref="tree=MeSH" title="MedGen record for Hereditary Central Nervous System Demyelinating Diseases">Hereditary Central Nervous System Demyelinating Diseases</a></span><ul><li><span class="TLline"><a href="/medgen/78724" ref="tree=MeSH" title="MedGen record for Alexander disease">Alexander disease</a></span></li><li><span class="TLline"><a href="/medgen/44131" ref="tree=MeSH" title="MedGen record for Galactosylceramide beta-galactosidase deficiency">Galactosylceramide beta-galactosidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/6071" ref="tree=MeSH" title="MedGen record for Metachromatic leukodystrophy">Metachromatic leukodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/61440" ref="tree=MeSH" title="MedGen record for Pelizaeus-Merzbacher disease">Pelizaeus-Merzbacher disease</a></span></li><li><span class="TLline"><a href="/medgen/61565" ref="tree=MeSH" title="MedGen record for Spongy degeneration of central nervous system">Spongy degeneration of central nervous system</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/541332" ref="tree=MeSH" title="MedGen record for Hereditary hypertyrosinemia">Hereditary hypertyrosinemia</a></span><ul><li><span class="TLline"><a href="/medgen/75688" ref="tree=MeSH" title="MedGen record for Tyrosinemia type I">Tyrosinemia type I</a></span></li><li><span class="TLline"><a href="/medgen/75687" ref="tree=MeSH" title="MedGen record for Tyrosinemia type II">Tyrosinemia type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42485" ref="tree=MeSH" title="MedGen record for Homocystinuria">Homocystinuria</a></span><ul><li><span class="TLline"><a href="/medgen/75697" ref="tree=MeSH" title="MedGen record for Arakawa syndrome 2">Arakawa syndrome 2</a></span></li><li><span class="TLline"><a href="/medgen/108623" ref="tree=MeSH" title="MedGen record for Hyperhomocysteinemia">Hyperhomocysteinemia</a></span></li><li><span class="TLline"><a href="/medgen/344640" ref="tree=MeSH" title="MedGen record for Methylcobalamin deficiency type cblE">Methylcobalamin deficiency type cblE</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82816" ref="tree=MeSH" title="MedGen record for Hyperlysinemia">Hyperlysinemia</a></span></li><li><span class="TLline"><a href="/medgen/82800" ref="tree=MeSH" title="MedGen record for ITM2B amyloidosis">ITM2B amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/1677186" ref="tree=MeSH" title="MedGen record for ABri amyloidosis">ABri amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/396208" ref="tree=MeSH" title="MedGen record for ADan amyloidosis">ADan amyloidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/44095" ref="tree=MeSH" title="MedGen record for Leigh disease">Leigh disease</a></span></li><li><span class="TLline"><a href="/medgen/9721" ref="tree=MeSH" title="MedGen record for Lesch-Nyhan syndrome">Lesch-Nyhan syndrome</a></span></li><li><span class="TLline"><a href="/medgen/148380" ref="tree=MeSH" title="MedGen record for Lysosomal Storage Diseases, Nervous System">Lysosomal Storage Diseases, Nervous System</a></span><ul><li><span class="TLline"><a href="/medgen/5288" ref="tree=MeSH" title="MedGen record for Fucosidosis">Fucosidosis</a></span></li><li><span class="TLline"><a href="/medgen/5340" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type II">Glycogen storage disease, type II</a></span></li><li><span class="TLline"><a href="/medgen/7731" ref="tree=MeSH" title="MedGen record for Mucolipidosis">Mucolipidosis</a></span></li><li><span class="TLline"><a href="/medgen/137980" ref="tree=MeSH" title="MedGen record for Sialuria">Sialuria</a></span></li><li><span class="TLline"><a href="/medgen/52453" ref="tree=MeSH" title="MedGen record for Sphingolipidosis">Sphingolipidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6217" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease">Maple syrup urine disease</a></span><ul><li><span class="TLline"><a href="/medgen/78689" ref="tree=MeSH" title="MedGen record for Classical maple syrup urine disease">Classical maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/301223" ref="tree=MeSH" title="MedGen record for Intermediate maple syrup urine disease">Intermediate maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/78690" ref="tree=MeSH" title="MedGen record for Intermittent maple syrup urine disease">Intermittent maple syrup urine disease</a></span></li><li><span class="TLline"><a href="/medgen/343337" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 2">Maple syrup urine disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/383668" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 1A">Maple syrup urine disease type 1A</a></span></li><li><span class="TLline"><a href="/medgen/443951" ref="tree=MeSH" title="MedGen record for Maple syrup urine disease type 1B">Maple syrup urine disease type 1B</a></span></li><li><span class="TLline"><a href="/medgen/199627" ref="tree=MeSH" title="MedGen record for Thiamine-responsive maple syrup urine disease">Thiamine-responsive maple syrup urine disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/56485" ref="tree=MeSH" title="MedGen record for MELAS syndrome">MELAS syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44030" ref="tree=MeSH" title="MedGen record for Menkes kinky-hair syndrome">Menkes kinky-hair syndrome</a></span></li><li><span class="TLline"><a href="/medgen/56486" ref="tree=MeSH" title="MedGen record for MERRF syndrome">MERRF syndrome</a></span></li><li><span class="TLline"><a href="/medgen/79470" ref="tree=MeSH" title="MedGen record for Peroxisome biogenesis disorder 1B">Peroxisome biogenesis disorder 1B</a></span></li><li><span class="TLline"><a href="/medgen/19244" ref="tree=MeSH" title="MedGen record for Phenylketonuria">Phenylketonuria</a></span><ul><li><span class="TLline"><a href="/medgen/209234" ref="tree=MeSH" title="MedGen record for 6-Pyruvoyl-tetrahydrobiopterin synthase deficiency">6-Pyruvoyl-tetrahydrobiopterin synthase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/199655" ref="tree=MeSH" title="MedGen record for Classical phenylketonuria">Classical phenylketonuria</a></span></li><li><span class="TLline"><a href="/medgen/75682" ref="tree=MeSH" title="MedGen record for Dihydropteridine reductase deficiency">Dihydropteridine reductase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1391882" ref="tree=MeSH" title="MedGen record for Hyperphenylalaninemia due to DNAJC12 deficiency">Hyperphenylalaninemia due to DNAJC12 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/88435" ref="tree=MeSH" title="MedGen record for Maternal phenylketonuria">Maternal phenylketonuria</a></span></li><li><span class="TLline"><a href="/medgen/1843033" ref="tree=MeSH" title="MedGen record for Mild hyperphenylalaninemia">Mild hyperphenylalaninemia</a></span></li><li><span class="TLline"><a href="/medgen/1842357" ref="tree=MeSH" title="MedGen record for Mild phenylketonuria">Mild phenylketonuria</a></span></li><li><span class="TLline"><a href="/medgen/1842546" ref="tree=MeSH" title="MedGen record for Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria">Tetrahydrobiopterin-responsive hyperphenylalaninemia/phenylketonuria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/11161" ref="tree=MeSH" title="MedGen record for Phytanic acid storage disease">Phytanic acid storage disease</a></span></li><li><span class="TLline"><a href="/medgen/18801" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency">Pyruvate carboxylase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1842785" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, benign type">Pyruvate carboxylase deficiency, benign type</a></span></li><li><span class="TLline"><a href="/medgen/1842180" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, infantile form">Pyruvate carboxylase deficiency, infantile form</a></span></li><li><span class="TLline"><a href="/medgen/1842956" ref="tree=MeSH" title="MedGen record for Pyruvate carboxylase deficiency, severe neonatal type">Pyruvate carboxylase deficiency, severe neonatal type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/19610" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase complex deficiency">Pyruvate dehydrogenase complex deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/326486" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-alpha deficiency">Pyruvate dehydrogenase E1-alpha deficiency</a></span></li><li><span class="TLline"><a href="/medgen/481471" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E1-beta deficiency">Pyruvate dehydrogenase E1-beta deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343386" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E2 deficiency">Pyruvate dehydrogenase E2 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1805500" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3 deficiency">Pyruvate dehydrogenase E3 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/343383" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase E3-binding protein deficiency">Pyruvate dehydrogenase E3-binding protein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/332448" ref="tree=MeSH" title="MedGen record for Pyruvate dehydrogenase phosphatase deficiency">Pyruvate dehydrogenase phosphatase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42426" ref="tree=MeSH" title="MedGen record for Wilson disease">Wilson disease</a></span></li><li><span class="TLline"><a href="/medgen/21958" ref="tree=MeSH" title="MedGen record for Zellweger spectrum disorders">Zellweger spectrum disorders</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/67438" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy">Congenital generalized lipodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/318592" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 1">Congenital generalized lipodystrophy type 1</a></span></li><li><span class="TLline"><a href="/medgen/318593" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 2">Congenital generalized lipodystrophy type 2</a></span></li><li><span class="TLline"><a href="/medgen/436541" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 3">Congenital generalized lipodystrophy type 3</a></span></li><li><span class="TLline"><a href="/medgen/412871" ref="tree=MeSH" title="MedGen record for Congenital generalized lipodystrophy type 4">Congenital generalized lipodystrophy type 4</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75662" ref="tree=MeSH" title="MedGen record for Cytochrome-c oxidase deficiency">Cytochrome-c oxidase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/489898" ref="tree=MeSH" title="MedGen record for Deficiency of bisphosphoglycerate mutase">Deficiency of bisphosphoglycerate mutase</a></span></li><li><span class="TLline"><a href="/medgen/713875" ref="tree=MeSH" title="MedGen record for Deficiency of enolase">Deficiency of enolase</a></span></li><li><span class="TLline"><a href="/medgen/584936" ref="tree=MeSH" title="MedGen record for Deficiency of hexokinase">Deficiency of hexokinase</a></span></li><li><span class="TLline"><a href="/medgen/409522" ref="tree=MeSH" title="MedGen record for Dihydropyrimidine dehydrogenase deficiency">Dihydropyrimidine dehydrogenase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/776457" ref="tree=MeSH" title="MedGen record for Fluoropyrimidine response">Fluoropyrimidine response</a></span><ul><li><span class="TLline"><a href="/medgen/450435" ref="tree=MeSH" title="MedGen record for Capecitabine response">Capecitabine response</a></span></li><li><span class="TLline"><a href="/medgen/450455" ref="tree=MeSH" title="MedGen record for Fluorouracil response">Fluorouracil response</a></span></li><li><span class="TLline"><a href="/medgen/338948" ref="tree=MeSH" title="MedGen record for Tegafur response">Tegafur response</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/468982" ref="tree=MeSH" title="MedGen record for Disorder of organic acid metabolism">Disorder of organic acid metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/777186" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria">3-Methylglutaconic aciduria</a></span><ul><li><span class="TLline"><a href="/medgen/90994" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 1">3-methylglutaconic aciduria type 1</a></span></li><li><span class="TLline"><a href="/medgen/107893" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 2">3-Methylglutaconic aciduria type 2</a></span></li><li><span class="TLline"><a href="/medgen/108273" ref="tree=MeSH" title="MedGen record for 3-Methylglutaconic aciduria type 3">3-Methylglutaconic aciduria type 3</a></span></li><li><span class="TLline"><a href="/medgen/344425" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 4">3-methylglutaconic aciduria type 4</a></span></li><li><span class="TLline"><a href="/medgen/347542" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 5">3-methylglutaconic aciduria type 5</a></span></li><li><span class="TLline"><a href="/medgen/934617" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 8">3-methylglutaconic aciduria type 8</a></span></li><li><span class="TLline"><a href="/medgen/1622927" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria type 9">3-methylglutaconic aciduria type 9</a></span></li><li><span class="TLline"><a href="/medgen/873604" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome">3-methylglutaconic aciduria with deafness, encephalopathy, and Leigh-like syndrome</a></span></li><li><span class="TLline"><a href="/medgen/1810214" ref="tree=MeSH" title="MedGen record for 3-methylglutaconic aciduria, type VIIB">3-methylglutaconic aciduria, type VIIB</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/341256" ref="tree=MeSH" title="MedGen record for Cobalamin C disease">Cobalamin C disease</a></span></li><li><span class="TLline"><a href="/medgen/280689" ref="tree=MeSH" title="MedGen record for Deficiency of acetyl-CoA acetyltransferase">Deficiency of acetyl-CoA acetyltransferase</a></span></li><li><span class="TLline"><a href="/medgen/78692" ref="tree=MeSH" title="MedGen record for Deficiency of hydroxymethylglutaryl-CoA lyase">Deficiency of hydroxymethylglutaryl-CoA lyase</a></span></li><li><span class="TLline"><a href="/medgen/124337" ref="tree=MeSH" title="MedGen record for Glutaric aciduria, type 1">Glutaric aciduria, type 1</a></span></li><li><span class="TLline"><a href="/medgen/82822" ref="tree=MeSH" title="MedGen record for Isovaleryl-CoA dehydrogenase deficiency">Isovaleryl-CoA dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1633312" ref="tree=MeSH" title="MedGen record for Methylcrotonyl-CoA carboxylase deficiency">Methylcrotonyl-CoA carboxylase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/78691" ref="tree=MeSH" title="MedGen record for 3-methylcrotonyl-CoA carboxylase 1 deficiency">3-methylcrotonyl-CoA carboxylase 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/347898" ref="tree=MeSH" title="MedGen record for 3-methylcrotonyl-CoA carboxylase 2 deficiency">3-methylcrotonyl-CoA carboxylase 2 deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120654" ref="tree=MeSH" title="MedGen record for Methylmalonic acidemia">Methylmalonic acidemia</a></span><ul><li><span class="TLline"><a href="/medgen/344419" ref="tree=MeSH" title="MedGen record for Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency">Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/341253" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria and homocystinuria type cblD">Methylmalonic aciduria and homocystinuria type cblD</a></span></li><li><span class="TLline"><a href="/medgen/344424" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency">Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/344422" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria, cblA type">Methylmalonic aciduria, cblA type</a></span></li><li><span class="TLline"><a href="/medgen/344420" ref="tree=MeSH" title="MedGen record for Methylmalonic aciduria, cblB type">Methylmalonic aciduria, cblB type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75694" ref="tree=MeSH" title="MedGen record for Propionic acidemia">Propionic acidemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/479882" ref="tree=MeSH" title="MedGen record for Erythrocyte Adenylate Kinase Deficiency">Erythrocyte Adenylate Kinase Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/360297" ref="tree=MeSH" title="MedGen record for Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome">Familial hyperphosphatemic tumoral calcinosis/hyperphosphatemic hyperostosis syndrome</a></span></li><li><span class="TLline"><a href="/medgen/42106" ref="tree=MeSH" title="MedGen record for Fructose-biphosphatase deficiency">Fructose-biphosphatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/473706" ref="tree=MeSH" title="MedGen record for G6PD deficiency">G6PD deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/4667" ref="tree=MeSH" title="MedGen record for Favism">Favism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/584934" ref="tree=MeSH" title="MedGen record for Glucose phosphate isomerase deficiency">Glucose phosphate isomerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1790766" ref="tree=MeSH" title="MedGen record for Glucose-6-Phosphatase 3 Deficiency">Glucose-6-Phosphatase 3 Deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/414066" ref="tree=MeSH" title="MedGen record for Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency">Autosomal recessive severe congenital neutropenia due to G6PC3 deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/97988" ref="tree=MeSH" title="MedGen record for Glutathione synthetase deficiency with 5-oxoprolinuria">Glutathione synthetase deficiency with 5-oxoprolinuria</a></span></li><li><span class="TLline"><a href="/medgen/6639" ref="tree=MeSH" title="MedGen record for Glycogen storage disease">Glycogen storage disease</a></span><ul><li><span class="TLline"><a href="/medgen/209235" ref="tree=MeSH" title="MedGen record for Danon disease">Danon disease</a></span></li><li><span class="TLline"><a href="/medgen/501176" ref="tree=MeSH" title="MedGen record for Fanconi-Bickel syndrome">Fanconi-Bickel syndrome</a></span></li><li><span class="TLline"><a href="/medgen/468559" ref="tree=MeSH" title="MedGen record for Glycogen phosphorylase kinase deficiency">Glycogen phosphorylase kinase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/453209" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to liver phosphorylase kinase deficiency">Glycogen storage disease due to liver phosphorylase kinase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/854172" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXa1">Glycogen storage disease IXa1</a></span></li><li><span class="TLline"><a href="/medgen/107772" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXb">Glycogen storage disease IXb</a></span></li><li><span class="TLline"><a href="/medgen/442778" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXc">Glycogen storage disease IXc</a></span></li><li><span class="TLline"><a href="/medgen/335112" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IXd">Glycogen storage disease IXd</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1805539" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase deficiency">Glycogen storage disease due to lactate dehydrogenase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/481534" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency">Glycogen storage disease due to lactate dehydrogenase H-subunit deficiency</a></span></li><li><span class="TLline"><a href="/medgen/419152" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency">Glycogen storage disease due to lactate dehydrogenase M-subunit deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/442873" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to muscle beta-enolase deficiency">Glycogen storage disease due to muscle beta-enolase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/410166" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to phosphoglycerate kinase 1 deficiency">Glycogen storage disease due to phosphoglycerate kinase 1 deficiency</a></span></li><li><span class="TLline"><a href="/medgen/6641" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type III">Glycogen storage disease type III</a></span><ul><li><span class="TLline"><a href="/medgen/369842" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIa">Glycogen storage disease IIIa</a></span></li><li><span class="TLline"><a href="/medgen/369843" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIb">Glycogen storage disease IIIb</a></span></li><li><span class="TLline"><a href="/medgen/369844" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIIc">Glycogen storage disease IIIc</a></span></li><li><span class="TLline"><a href="/medgen/369845" ref="tree=MeSH" title="MedGen record for Glycogen storage disease IIId">Glycogen storage disease IIId</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42261" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type VIII">Glycogen storage disease type VIII</a></span></li><li><span class="TLline"><a href="/medgen/120613" ref="tree=MeSH" title="MedGen record for Glycogen storage disease type X">Glycogen storage disease type X</a></span></li><li><span class="TLline"><a href="/medgen/462104" ref="tree=MeSH" title="MedGen record for Glycogen storage disease XV">Glycogen storage disease XV</a></span></li><li><span class="TLline"><a href="/medgen/6640" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type I">Glycogen storage disease, type I</a></span><ul><li><span class="TLline"><a href="/medgen/78644" ref="tree=MeSH" title="MedGen record for Glucose-6-phosphate transport defect">Glucose-6-phosphate transport defect</a></span></li><li><span class="TLline"><a href="/medgen/415885" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glucose-6-phosphatase deficiency type IA">Glycogen storage disease due to glucose-6-phosphatase deficiency type IA</a></span></li><li><span class="TLline"><a href="/medgen/87455" ref="tree=MeSH" title="MedGen record for Phosphate transport defect">Phosphate transport defect</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6642" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type IV">Glycogen storage disease, type IV</a></span><ul><li><span class="TLline"><a href="/medgen/342338" ref="tree=MeSH" title="MedGen record for Adult polyglucosan body disease">Adult polyglucosan body disease</a></span></li><li><span class="TLline"><a href="/medgen/343525" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, adult neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/1842442" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood combined hepatic and myopathic form</a></span></li><li><span class="TLline"><a href="/medgen/343524" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, childhood neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/343523" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, congenital neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/383883" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form">Glycogen storage disease due to glycogen branching enzyme deficiency, fatal perinatal neuromuscular form</a></span></li><li><span class="TLline"><a href="/medgen/344701" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form">Glycogen storage disease due to glycogen branching enzyme deficiency, non progressive hepatic form</a></span></li><li><span class="TLline"><a href="/medgen/1826169" ref="tree=MeSH" title="MedGen record for Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form">Glycogen storage disease due to glycogen branching enzyme deficiency, progressive hepatic form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5341" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type V">Glycogen storage disease, type V</a></span></li><li><span class="TLline"><a href="/medgen/6643" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type VI">Glycogen storage disease, type VI</a></span></li><li><span class="TLline"><a href="/medgen/5342" ref="tree=MeSH" title="MedGen record for Glycogen storage disease, type VII">Glycogen storage disease, type VII</a></span></li><li><span class="TLline"><a href="/medgen/82895" ref="tree=MeSH" title="MedGen record for HNSHA due to aldolase A deficiency">HNSHA due to aldolase A deficiency</a></span></li><li><span class="TLline"><a href="/medgen/337919" ref="tree=MeSH" title="MedGen record for Lethal congenital glycogen storage disease of heart">Lethal congenital glycogen storage disease of heart</a></span></li><li><span class="TLline"><a href="/medgen/414536" ref="tree=MeSH" title="MedGen record for PGM1-congenital disorder of glycosylation">PGM1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/863042" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy type 1">Polyglucosan body myopathy type 1</a></span><ul><li><span class="TLline"><a href="/medgen/865668" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy 1 with immunodeficiency">Polyglucosan body myopathy 1 with immunodeficiency</a></span></li><li><span class="TLline"><a href="/medgen/865669" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy 1 without immunodeficiency">Polyglucosan body myopathy 1 without immunodeficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/863889" ref="tree=MeSH" title="MedGen record for Polyglucosan body myopathy type 2">Polyglucosan body myopathy type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/148146" ref="tree=MeSH" title="MedGen record for Hereditary amyloidosis">Hereditary amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/104815" ref="tree=MeSH" title="MedGen record for Familial amyloid neuropathy">Familial amyloid neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/82799" ref="tree=MeSH" title="MedGen record for Familial visceral amyloidosis, Ostertag type">Familial visceral amyloidosis, Ostertag type</a></span><ul><li><span class="TLline"><a href="/medgen/1842920" ref="tree=MeSH" title="MedGen record for AApoAI amyloidosis">AApoAI amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1826152" ref="tree=MeSH" title="MedGen record for AFib amyloidosis">AFib amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1842307" ref="tree=MeSH" title="MedGen record for ALys amyloidosis">ALys amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1842484" ref="tree=MeSH" title="MedGen record for Apolipoprotein A-II amyloidosis">Apolipoprotein A-II amyloidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/301243" ref="tree=MeSH" title="MedGen record for Finnish type amyloidosis">Finnish type amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/267610" ref="tree=MeSH" title="MedGen record for Hereditary cerebral hemorrhage with amyloidosis">Hereditary cerebral hemorrhage with amyloidosis</a></span><ul><li><span class="TLline"><a href="/medgen/414032" ref="tree=MeSH" title="MedGen record for ABeta amyloidosis, Arctic type">ABeta amyloidosis, Arctic type</a></span></li><li><span class="TLline"><a href="/medgen/419468" ref="tree=MeSH" title="MedGen record for ABeta amyloidosis, dutch type">ABeta amyloidosis, dutch type</a></span></li><li><span class="TLline"><a href="/medgen/854855" ref="tree=MeSH" title="MedGen record for ABeta amyloidosis, Iowa type">ABeta amyloidosis, Iowa type</a></span></li><li><span class="TLline"><a href="/medgen/854854" ref="tree=MeSH" title="MedGen record for ABeta amyloidosis, Italian type">ABeta amyloidosis, Italian type</a></span></li><li><span class="TLline"><a href="/medgen/854853" ref="tree=MeSH" title="MedGen record for ABetaA21G amyloidosis">ABetaA21G amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/1842835" ref="tree=MeSH" title="MedGen record for ABetaL34V amyloidosis">ABetaL34V amyloidosis</a></span></li><li><span class="TLline"><a href="/medgen/279656" ref="tree=MeSH" title="MedGen record for Hereditary cerebral amyloid angiopathy, Icelandic type">Hereditary cerebral amyloid angiopathy, Icelandic type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/928338" ref="tree=MeSH" title="MedGen record for Variant ABeta2M amyloidosis">Variant ABeta2M amyloidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/42105" ref="tree=MeSH" title="MedGen record for Hereditary fructosuria">Hereditary fructosuria</a></span></li><li><span class="TLline"><a href="/medgen/6963" ref="tree=MeSH" title="MedGen record for Hereditary hyperbilirubinemia">Hereditary hyperbilirubinemia</a></span><ul><li><span class="TLline"><a href="/medgen/1789261" ref="tree=MeSH" title="MedGen record for Crigler-Najjar syndrome">Crigler-Najjar syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/41346" ref="tree=MeSH" title="MedGen record for Crigler-Najjar syndrome type 1">Crigler-Najjar syndrome type 1</a></span></li><li><span class="TLline"><a href="/medgen/419718" ref="tree=MeSH" title="MedGen record for Crigler-Najjar syndrome, type II">Crigler-Najjar syndrome, type II</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7181" ref="tree=MeSH" title="MedGen record for Dubin-Johnson syndrome">Dubin-Johnson syndrome</a></span></li><li><span class="TLline"><a href="/medgen/4891" ref="tree=MeSH" title="MedGen record for Gilbert syndrome">Gilbert syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/472940" ref="tree=MeSH" title="MedGen record for Hereditary orotic aciduria">Hereditary orotic aciduria</a></span></li><li><span class="TLline"><a href="/medgen/1391920" ref="tree=MeSH" title="MedGen record for Hexose-6-phosphate Dehydrogenase Deficiency">Hexose-6-phosphate Dehydrogenase Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/120653" ref="tree=MeSH" title="MedGen record for Holocarboxylase synthetase deficiency">Holocarboxylase synthetase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/46123" ref="tree=MeSH" title="MedGen record for Hutchinson-Gilford syndrome">Hutchinson-Gilford syndrome</a></span></li><li><span class="TLline"><a href="/medgen/2825" ref="tree=MeSH" title="MedGen record for Inborn carbohydrate metabolic disorder">Inborn carbohydrate metabolic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/76469" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation">Congenital disorder of glycosylation</a></span><ul><li><span class="TLline"><a href="/medgen/419308" ref="tree=MeSH" title="MedGen record for ALG1-congenital disorder of glycosylation">ALG1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/462263" ref="tree=MeSH" title="MedGen record for ALG11-congenital disorder of glycosylation">ALG11-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443954" ref="tree=MeSH" title="MedGen record for ALG12-congenital disorder of glycosylation">ALG12-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/334618" ref="tree=MeSH" title="MedGen record for ALG2-congenital disorder of glycosylation">ALG2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/322026" ref="tree=MeSH" title="MedGen record for ALG3-congenital disorder of glycosylation">ALG3-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443952" ref="tree=MeSH" title="MedGen record for ALG6-congenital disorder of glycosylation 1C">ALG6-congenital disorder of glycosylation 1C</a></span></li><li><span class="TLline"><a href="/medgen/419692" ref="tree=MeSH" title="MedGen record for ALG8 congenital disorder of glycosylation">ALG8 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443955" ref="tree=MeSH" title="MedGen record for ALG9 congenital disorder of glycosylation">ALG9 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419310" ref="tree=MeSH" title="MedGen record for B4GALT1-congenital disorder of glycosylation">B4GALT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/443957" ref="tree=MeSH" title="MedGen record for COG1 congenital disorder of glycosylation">COG1 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/929221" ref="tree=MeSH" title="MedGen record for COG4-congenital disorder of glycosylation">COG4-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/462226" ref="tree=MeSH" title="MedGen record for COG5-congenital disorder of glycosylation">COG5-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/766144" ref="tree=MeSH" title="MedGen record for COG6-congenital disorder of glycosylation">COG6-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419311" ref="tree=MeSH" title="MedGen record for COG7 congenital disorder of glycosylation">COG7 congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/409971" ref="tree=MeSH" title="MedGen record for COG8-congenital disorder of glycosylation">COG8-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/815321" ref="tree=MeSH" title="MedGen record for Congenital disorder of deglycosylation">Congenital disorder of deglycosylation</a></span></li><li><span class="TLline"><a href="/medgen/324784" ref="tree=MeSH" title="MedGen record for Congenital disorder of glycosylation type 1E">Congenital disorder of glycosylation type 1E</a></span></li><li><span class="TLline"><a href="/medgen/1682844" ref="tree=MeSH" title="MedGen record for Congenital muscular dystrophy with intellectual disability and severe epilepsy">Congenital muscular dystrophy with intellectual disability and severe epilepsy</a></span></li><li><span class="TLline"><a href="/medgen/1382656" ref="tree=MeSH" title="MedGen record for Developmental and epileptic encephalopathy, 36">Developmental and epileptic encephalopathy, 36</a></span></li><li><span class="TLline"><a href="/medgen/332072" ref="tree=MeSH" title="MedGen record for DK1-congenital disorder of glycosylation">DK1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/419694" ref="tree=MeSH" title="MedGen record for DPAGT1-congenital disorder of glycosylation">DPAGT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/414534" ref="tree=MeSH" title="MedGen record for DPM3-congenital disorder of glycosylation">DPM3-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/96022" ref="tree=MeSH" title="MedGen record for Leukocyte adhesion deficiency type II">Leukocyte adhesion deficiency type II</a></span></li><li><span class="TLline"><a href="/medgen/443956" ref="tree=MeSH" title="MedGen record for MGAT2-congenital disorder of glycosylation">MGAT2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/342954" ref="tree=MeSH" title="MedGen record for MOGS-congenital disorder of glycosylation">MOGS-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/322968" ref="tree=MeSH" title="MedGen record for MPDU1-congenital disorder of glycosylation">MPDU1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/400692" ref="tree=MeSH" title="MedGen record for MPI-congenital disorder of glycosylation">MPI-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/138111" ref="tree=MeSH" title="MedGen record for PMM2-congenital disorder of glycosylation">PMM2-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/383145" ref="tree=MeSH" title="MedGen record for RFT1-congenital disorder of glycosylation">RFT1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/370234" ref="tree=MeSH" title="MedGen record for SLC35A1-congenital disorder of glycosylation">SLC35A1-congenital disorder of glycosylation</a></span></li><li><span class="TLline"><a href="/medgen/1392124" ref="tree=MeSH" title="MedGen record for SRD5A3-congenital disorder of glycosylation">SRD5A3-congenital disorder of glycosylation</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8922" ref="tree=MeSH" title="MedGen record for Fructose Metabolism, Inborn Errors">Fructose Metabolism, Inborn Errors</a></span></li><li><span class="TLline"><a href="/medgen/19612" ref="tree=MeSH" title="MedGen record for Inborn error of pyruvate metabolism">Inborn error of pyruvate metabolism</a></span></li><li><span class="TLline"><a href="/medgen/6001" ref="tree=MeSH" title="MedGen record for Lactose intolerance">Lactose intolerance</a></span></li><li><span class="TLline"><a href="/medgen/226231" ref="tree=MeSH" title="MedGen record for Mannosidosis">Mannosidosis</a></span><ul><li><span class="TLline"><a href="/medgen/888408" ref="tree=MeSH" title="MedGen record for Beta-D-mannosidosis">Beta-D-mannosidosis</a></span></li><li><span class="TLline"><a href="/medgen/7467" ref="tree=MeSH" title="MedGen record for Deficiency of alpha-mannosidase">Deficiency of alpha-mannosidase</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/7733" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis">Mucopolysaccharidosis</a></span><ul><li><span class="TLline"><a href="/medgen/226942" ref="tree=MeSH" title="MedGen record for Deficiency of hyaluronoglucosaminidase">Deficiency of hyaluronoglucosaminidase</a></span></li><li><span class="TLline"><a href="/medgen/44513" ref="tree=MeSH" title="MedGen record for Morquio syndrome">Morquio syndrome</a></span></li><li><span class="TLline"><a href="/medgen/44171" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 1">Mucopolysaccharidosis type 1</a></span></li><li><span class="TLline"><a href="/medgen/44514" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 6">Mucopolysaccharidosis type 6</a></span></li><li><span class="TLline"><a href="/medgen/43108" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis type 7">Mucopolysaccharidosis type 7</a></span></li><li><span class="TLline"><a href="/medgen/7734" ref="tree=MeSH" title="MedGen record for Mucopolysaccharidosis, MPS-II">Mucopolysaccharidosis, MPS-II</a></span></li><li><span class="TLline"><a href="/medgen/6452" ref="tree=MeSH" title="MedGen record for Sanfilippo syndrome">Sanfilippo syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10119" ref="tree=MeSH" title="MedGen record for Multiple carboxylase deficiency">Multiple carboxylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/5697" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria">Primary hyperoxaluria</a></span><ul><li><span class="TLline"><a href="/medgen/462228" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria type 3">Primary hyperoxaluria type 3</a></span></li><li><span class="TLline"><a href="/medgen/75658" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria, type I">Primary hyperoxaluria, type I</a></span></li><li><span class="TLline"><a href="/medgen/120616" ref="tree=MeSH" title="MedGen record for Primary hyperoxaluria, type II">Primary hyperoxaluria, type II</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/48263" ref="tree=MeSH" title="MedGen record for Inborn disorder of purine or pyrimidine metabolism">Inborn disorder of purine or pyrimidine metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/42280" ref="tree=MeSH" title="MedGen record for Gout">Gout</a></span><ul><li><span class="TLline"><a href="/medgen/406" ref="tree=MeSH" title="MedGen record for Gouty arthropathy">Gouty arthropathy</a></span></li><li><span class="TLline"><a href="/medgen/450998" ref="tree=MeSH" title="MedGen record for Podagra">Podagra</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1867" ref="tree=MeSH" title="MedGen record for Inborn error of amino acid metabolism">Inborn error of amino acid metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/182" ref="tree=MeSH" title="MedGen record for Albinism">Albinism</a></span><ul><li><span class="TLline"><a href="/medgen/3347" ref="tree=MeSH" title="MedGen record for Chédiak-Higashi syndrome">Chédiak-Higashi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/38147" ref="tree=MeSH" title="MedGen record for Ocular albinism">Ocular albinism</a></span></li><li><span class="TLline"><a href="/medgen/90991" ref="tree=MeSH" title="MedGen record for Ocular albinism, type I">Ocular albinism, type I</a></span></li><li><span class="TLline"><a href="/medgen/36250" ref="tree=MeSH" title="MedGen record for Oculocutaneous albinism">Oculocutaneous albinism</a></span></li><li><span class="TLline"><a href="/medgen/36361" ref="tree=MeSH" title="MedGen record for Piebaldism">Piebaldism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/1413" ref="tree=MeSH" title="MedGen record for Alkaptonuria">Alkaptonuria</a></span></li><li><span class="TLline"><a href="/medgen/417702" ref="tree=MeSH" title="MedGen record for Beta-Methylcrotonylglycinuria">Beta-Methylcrotonylglycinuria</a></span></li><li><span class="TLline"><a href="/medgen/90998" ref="tree=MeSH" title="MedGen record for Deficiency of butyryl-CoA dehydrogenase">Deficiency of butyryl-CoA dehydrogenase</a></span></li><li><span class="TLline"><a href="/medgen/75696" ref="tree=MeSH" title="MedGen record for Multiple acyl-CoA dehydrogenase deficiency">Multiple acyl-CoA dehydrogenase deficiency</a></span><ul><li><span class="TLline"><a href="/medgen/1843108" ref="tree=MeSH" title="MedGen record for Multiple acyl-CoA dehydrogenase deficiency, mild type">Multiple acyl-CoA dehydrogenase deficiency, mild type</a></span></li><li><span class="TLline"><a href="/medgen/1842925" ref="tree=MeSH" title="MedGen record for Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type">Multiple acyl-CoA dehydrogenase deficiency, severe neonatal type</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/120647" ref="tree=MeSH" title="MedGen record for Prolidase deficiency">Prolidase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6325" ref="tree=MeSH" title="MedGen record for Inborn metal metabolism disorder">Inborn metal metabolism disorder</a></span><ul><li><span class="TLline"><a href="/medgen/5492" ref="tree=MeSH" title="MedGen record for Bronze diabetes">Bronze diabetes</a></span><ul><li><span class="TLline"><a href="/medgen/140272" ref="tree=MeSH" title="MedGen record for Hereditary hemochromatosis">Hereditary hemochromatosis</a></span></li><li><span class="TLline"><a href="/medgen/82768" ref="tree=MeSH" title="MedGen record for Neonatal hemochromatosis">Neonatal hemochromatosis</a></span></li><li><span class="TLline"><a href="/medgen/536772" ref="tree=MeSH" title="MedGen record for Secondary hemochromatosis">Secondary hemochromatosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/5713" ref="tree=MeSH" title="MedGen record for Familial Hypophosphatemias">Familial Hypophosphatemias</a></span><ul><li><span class="TLline"><a href="/medgen/760752" ref="tree=MeSH" title="MedGen record for Vitamin D-dependent rickets, type 2">Vitamin D-dependent rickets, type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/18291" ref="tree=MeSH" title="MedGen record for Familial periodic paralysis">Familial periodic paralysis</a></span><ul><li><span class="TLline"><a href="/medgen/327586" ref="tree=MeSH" title="MedGen record for Andersen Tawil syndrome">Andersen Tawil syndrome</a></span></li><li><span class="TLline"><a href="/medgen/68665" ref="tree=MeSH" title="MedGen record for Hyperkalemic periodic paralysis">Hyperkalemic periodic paralysis</a></span></li><li><span class="TLline"><a href="/medgen/116058" ref="tree=MeSH" title="MedGen record for Hypokalemic periodic paralysis">Hypokalemic periodic paralysis</a></span></li><li><span class="TLline"><a href="/medgen/1670241" ref="tree=MeSH" title="MedGen record for Periodic paralysis with later-onset distal motor neuropathy">Periodic paralysis with later-onset distal motor neuropathy</a></span></li><li><span class="TLline"><a href="/medgen/1668303" ref="tree=MeSH" title="MedGen record for Periodic paralysis with transient compartment-like syndrome">Periodic paralysis with transient compartment-like syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/43799" ref="tree=MeSH" title="MedGen record for Hypophosphatasia">Hypophosphatasia</a></span><ul><li><span class="TLline"><a href="/medgen/120636" ref="tree=MeSH" title="MedGen record for Adult hypophosphatasia">Adult hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/65089" ref="tree=MeSH" title="MedGen record for Childhood hypophosphatasia">Childhood hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/75677" ref="tree=MeSH" title="MedGen record for Infantile hypophosphatasia">Infantile hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/326709" ref="tree=MeSH" title="MedGen record for Odontohypophosphatasia">Odontohypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/392928" ref="tree=MeSH" title="MedGen record for Perinatal lethal hypophosphatasia">Perinatal lethal hypophosphatasia</a></span></li><li><span class="TLline"><a href="/medgen/1842672" ref="tree=MeSH" title="MedGen record for Prenatal benign hypophosphatasia">Prenatal benign hypophosphatasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/46178" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism">Pseudohypoparathyroidism</a></span><ul><li><span class="TLline"><a href="/medgen/350343" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism type 1B">Pseudohypoparathyroidism type 1B</a></span></li><li><span class="TLline"><a href="/medgen/420958" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism type 1C">Pseudohypoparathyroidism type 1C</a></span></li><li><span class="TLline"><a href="/medgen/488447" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism type I A">Pseudohypoparathyroidism type I A</a></span></li><li><span class="TLline"><a href="/medgen/444371" ref="tree=MeSH" title="MedGen record for Pseudohypoparathyroidism type II">Pseudohypoparathyroidism type II</a></span></li><li><span class="TLline"><a href="/medgen/10995" ref="tree=MeSH" title="MedGen record for Pseudopseudohypoparathyroidism">Pseudopseudohypoparathyroidism</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/57587" ref="tree=MeSH" title="MedGen record for Inherited lipid metabolism disorder">Inherited lipid metabolism disorder</a></span><ul><li><span class="TLline"><a href="/medgen/75667" ref="tree=MeSH" title="MedGen record for 3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency">3-Oxo-5 alpha-steroid delta 4-dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1253" ref="tree=MeSH" title="MedGen record for Abetalipoproteinaemia">Abetalipoproteinaemia</a></span></li><li><span class="TLline"><a href="/medgen/468968" ref="tree=MeSH" title="MedGen record for Disorder of fatty acid metabolism">Disorder of fatty acid metabolism</a></span><ul><li><span class="TLline"><a href="/medgen/91000" ref="tree=MeSH" title="MedGen record for Carnitine acylcarnitine translocase deficiency">Carnitine acylcarnitine translocase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/316820" ref="tree=MeSH" title="MedGen record for Carnitine palmitoyl transferase 1A deficiency">Carnitine palmitoyl transferase 1A deficiency</a></span></li><li><span class="TLline"><a href="/medgen/322211" ref="tree=MeSH" title="MedGen record for Carnitine palmitoyl transferase II deficiency, severe infantile form">Carnitine palmitoyl transferase II deficiency, severe infantile form</a></span></li><li><span class="TLline"><a href="/medgen/137978" ref="tree=MeSH" title="MedGen record for Carnitine palmitoyltransferase II deficiency">Carnitine palmitoyltransferase II deficiency</a></span></li><li><span class="TLline"><a href="/medgen/65087" ref="tree=MeSH" title="MedGen record for Long chain acyl-CoA dehydrogenase deficiency">Long chain acyl-CoA dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/65086" ref="tree=MeSH" title="MedGen record for Medium-chain acyl-coenzyme A dehydrogenase deficiency">Medium-chain acyl-coenzyme A dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/370665" ref="tree=MeSH" title="MedGen record for Mitochondrial trifunctional protein deficiency">Mitochondrial trifunctional protein deficiency</a></span></li><li><span class="TLline"><a href="/medgen/90999" ref="tree=MeSH" title="MedGen record for Renal carnitine transport defect">Renal carnitine transport defect</a></span></li><li><span class="TLline"><a href="/medgen/854382" ref="tree=MeSH" title="MedGen record for Very long chain acyl-CoA dehydrogenase deficiency">Very long chain acyl-CoA dehydrogenase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/66067" ref="tree=MeSH" title="MedGen record for Dyslipidemia">Dyslipidemia</a></span><ul><li><span class="TLline"><a href="/medgen/5692" ref="tree=MeSH" title="MedGen record for Hyperlipidemia">Hyperlipidemia</a></span></li><li><span class="TLline"><a href="/medgen/6982" ref="tree=MeSH" title="MedGen record for Hypolipoproteinemia">Hypolipoproteinemia</a></span></li><li><span class="TLline"><a href="/medgen/61231" ref="tree=MeSH" title="MedGen record for Smith-Lemli-Opitz syndrome">Smith-Lemli-Opitz syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78654" ref="tree=MeSH" title="MedGen record for Farber lipogranulomatosis">Farber lipogranulomatosis</a></span></li><li><span class="TLline"><a href="/medgen/6106" ref="tree=MeSH" title="MedGen record for Lipid Metabolism, Inborn Errors">Lipid Metabolism, Inborn Errors</a></span><ul><li><span class="TLline"><a href="/medgen/352827" ref="tree=MeSH" title="MedGen record for Apolipoprotein B deficiency">Apolipoprotein B deficiency</a></span></li><li><span class="TLline"><a href="/medgen/116041" ref="tree=MeSH" title="MedGen record for Cholestanol storage disease">Cholestanol storage disease</a></span></li><li><span class="TLline"><a href="/medgen/5688" ref="tree=MeSH" title="MedGen record for Familial hypercholesterolemia">Familial hypercholesterolemia</a></span></li><li><span class="TLline"><a href="/medgen/124408" ref="tree=MeSH" title="MedGen record for Familial partial lipodystrophy">Familial partial lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/9364" ref="tree=MeSH" title="MedGen record for Familial type 3 hyperlipoproteinemia">Familial type 3 hyperlipoproteinemia</a></span></li><li><span class="TLline"><a href="/medgen/5693" ref="tree=MeSH" title="MedGen record for Familial type 5 hyperlipoproteinemia">Familial type 5 hyperlipoproteinemia</a></span></li><li><span class="TLline"><a href="/medgen/6965" ref="tree=MeSH" title="MedGen record for Hyperlipidemia, familial combined, LPL related">Hyperlipidemia, familial combined, LPL related</a></span></li><li><span class="TLline"><a href="/medgen/9365" ref="tree=MeSH" title="MedGen record for Hyperlipoproteinemia type IV">Hyperlipoproteinemia type IV</a></span></li><li><span class="TLline"><a href="/medgen/7352" ref="tree=MeSH" title="MedGen record for Hyperlipoproteinemia, type I">Hyperlipoproteinemia, type I</a></span></li><li><span class="TLline"><a href="/medgen/9780" ref="tree=MeSH" title="MedGen record for Lysosomal lipid storage disorder">Lysosomal lipid storage disorder</a></span></li><li><span class="TLline"><a href="/medgen/124418" ref="tree=MeSH" title="MedGen record for Shwachman syndrome">Shwachman syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/6111" ref="tree=MeSH" title="MedGen record for Lipodystrophy">Lipodystrophy</a></span><ul><li><span class="TLline"><a href="/medgen/543499" ref="tree=MeSH" title="MedGen record for Acquired generalized lipodystrophy">Acquired generalized lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1369615" ref="tree=MeSH" title="MedGen record for Generalized lipodystrophy">Generalized lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/313244" ref="tree=MeSH" title="MedGen record for HIV Lipodystrophy">HIV Lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/210205" ref="tree=MeSH" title="MedGen record for HIV-Associated Lipodystrophy Syndrome">HIV-Associated Lipodystrophy Syndrome</a></span></li><li><span class="TLline"><a href="/medgen/488959" ref="tree=MeSH" title="MedGen record for Lipoatrophy">Lipoatrophy</a></span></li><li><span class="TLline"><a href="/medgen/1385527" ref="tree=MeSH" title="MedGen record for Localized lipodystrophy">Localized lipodystrophy</a></span></li><li><span class="TLline"><a href="/medgen/1386287" ref="tree=MeSH" title="MedGen record for Partial lipodystrophy">Partial lipodystrophy</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9781" ref="tree=MeSH" title="MedGen record for Lipomatosis">Lipomatosis</a></span><ul><li><span class="TLline"><a href="/medgen/698553" ref="tree=MeSH" title="MedGen record for Familial multiple lipomatosis">Familial multiple lipomatosis</a></span></li><li><span class="TLline"><a href="/medgen/1757" ref="tree=MeSH" title="MedGen record for Lipomatosis dolorosa">Lipomatosis dolorosa</a></span></li><li><span class="TLline"><a href="/medgen/7349" ref="tree=MeSH" title="MedGen record for Multiple symmetric lipomatosis">Multiple symmetric lipomatosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/21939" ref="tree=MeSH" title="MedGen record for Xanthomatosis">Xanthomatosis</a></span><ul><li><span class="TLline"><a href="/medgen/871319" ref="tree=MeSH" title="MedGen record for Atheroeruptive xanthoma">Atheroeruptive xanthoma</a></span></li><li><span class="TLline"><a href="/medgen/66366" ref="tree=MeSH" title="MedGen record for Eruptive xanthomas">Eruptive xanthomas</a></span></li><li><span class="TLline"><a href="/medgen/266158" ref="tree=MeSH" title="MedGen record for Necrobiotic xanthogranuloma">Necrobiotic xanthogranuloma</a></span></li><li><span class="TLline"><a href="/medgen/86213" ref="tree=MeSH" title="MedGen record for Tuberous xanthoma">Tuberous xanthoma</a></span></li><li><span class="TLline"><a href="/medgen/91076" ref="tree=MeSH" title="MedGen record for Verruciform xanthoma">Verruciform xanthoma</a></span></li><li><span class="TLline"><a href="/medgen/1389204" ref="tree=MeSH" title="MedGen record for Xanthomas of the palmar creases">Xanthomas of the palmar creases</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/474863" ref="tree=MeSH" title="MedGen record for Intermediary Metabolism Disorder">Intermediary Metabolism Disorder</a></span></li><li><span class="TLline"><a href="/medgen/43098" ref="tree=MeSH" title="MedGen record for Lysosomal storage disease">Lysosomal storage disease</a></span><ul><li><span class="TLline"><a href="/medgen/78674" ref="tree=MeSH" title="MedGen record for Acid phosphatase deficiency">Acid phosphatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/78649" ref="tree=MeSH" title="MedGen record for Aspartylglucosaminuria">Aspartylglucosaminuria</a></span></li><li><span class="TLline"><a href="/medgen/40266" ref="tree=MeSH" title="MedGen record for Cholesteryl ester storage disease">Cholesteryl ester storage disease</a></span><ul><li><span class="TLline"><a href="/medgen/53088" ref="tree=MeSH" title="MedGen record for Wolman disease">Wolman disease</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/82779" ref="tree=MeSH" title="MedGen record for Combined deficiency of sialidase AND beta galactosidase">Combined deficiency of sialidase AND beta galactosidase</a></span></li><li><span class="TLline"><a href="/medgen/1384792" ref="tree=MeSH" title="MedGen record for Cystinosis">Cystinosis</a></span><ul><li><span class="TLline"><a href="/medgen/760976" ref="tree=MeSH" title="MedGen record for Infantile nephropathic cystinosis">Infantile nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/75701" ref="tree=MeSH" title="MedGen record for Juvenile nephropathic cystinosis">Juvenile nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/419735" ref="tree=MeSH" title="MedGen record for Nephropathic cystinosis">Nephropathic cystinosis</a></span></li><li><span class="TLline"><a href="/medgen/419313" ref="tree=MeSH" title="MedGen record for Ocular cystinosis">Ocular cystinosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/8083" ref="tree=MeSH" title="MedGen record for Fabry disease">Fabry disease</a></span></li><li><span class="TLline"><a href="/medgen/42164" ref="tree=MeSH" title="MedGen record for Gaucher disease">Gaucher disease</a></span><ul><li><span class="TLline"><a href="/medgen/350479" ref="tree=MeSH" title="MedGen record for Gaucher disease due to saposin C deficiency">Gaucher disease due to saposin C deficiency</a></span></li><li><span class="TLline"><a href="/medgen/374996" ref="tree=MeSH" title="MedGen record for Gaucher disease perinatal lethal">Gaucher disease perinatal lethal</a></span></li><li><span class="TLline"><a href="/medgen/383926" ref="tree=MeSH" title="MedGen record for Gaucher disease type 3A">Gaucher disease type 3A</a></span></li><li><span class="TLline"><a href="/medgen/344746" ref="tree=MeSH" title="MedGen record for Gaucher disease type 3B">Gaucher disease type 3B</a></span></li><li><span class="TLline"><a href="/medgen/409531" ref="tree=MeSH" title="MedGen record for Gaucher disease type I">Gaucher disease type I</a></span></li><li><span class="TLline"><a href="/medgen/78652" ref="tree=MeSH" title="MedGen record for Gaucher disease type II">Gaucher disease type II</a></span></li><li><span class="TLline"><a href="/medgen/78653" ref="tree=MeSH" title="MedGen record for Gaucher disease type III">Gaucher disease type III</a></span></li><li><span class="TLline"><a href="/medgen/383927" ref="tree=MeSH" title="MedGen record for Gaucher disease, Norrbottnian type">Gaucher disease, Norrbottnian type</a></span></li><li><span class="TLline"><a href="/medgen/341563" ref="tree=MeSH" title="MedGen record for Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome">Gaucher disease-ophthalmoplegia-cardiovascular calcification syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/43107" ref="tree=MeSH" title="MedGen record for GM1 gangliosidosis">GM1 gangliosidosis</a></span><ul><li><span class="TLline"><a href="/medgen/120625" ref="tree=MeSH" title="MedGen record for GM1 gangliosidosis type 2">GM1 gangliosidosis type 2</a></span></li><li><span class="TLline"><a href="/medgen/78655" ref="tree=MeSH" title="MedGen record for GM1 gangliosidosis type 3">GM1 gangliosidosis type 3</a></span></li><li><span class="TLline"><a href="/medgen/75665" ref="tree=MeSH" title="MedGen record for Infantile GM1 gangliosidosis">Infantile GM1 gangliosidosis</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/462251" ref="tree=MeSH" title="MedGen record for Hereditary spastic paraplegia 48">Hereditary spastic paraplegia 48</a></span></li><li><span class="TLline"><a href="/medgen/75664" ref="tree=MeSH" title="MedGen record for Multiple sulfatase deficiency">Multiple sulfatase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/116061" ref="tree=MeSH" title="MedGen record for Pyknodysostosis">Pyknodysostosis</a></span></li><li><span class="TLline"><a href="/medgen/11313" ref="tree=MeSH" title="MedGen record for Sandhoff disease">Sandhoff disease</a></span><ul><li><span class="TLline"><a href="/medgen/148319" ref="tree=MeSH" title="MedGen record for Sandhoff disease, adult form">Sandhoff disease, adult form</a></span></li><li><span class="TLline"><a href="/medgen/199669" ref="tree=MeSH" title="MedGen record for Sandhoff disease, infantile form">Sandhoff disease, infantile form</a></span></li><li><span class="TLline"><a href="/medgen/148320" ref="tree=MeSH" title="MedGen record for Sandhoff disease, juvenile form">Sandhoff disease, juvenile form</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10348" ref="tree=MeSH" title="MedGen record for Sphingomyelin/cholesterol lipidosis">Sphingomyelin/cholesterol lipidosis</a></span><ul><li><span class="TLline"><a href="/medgen/1800807" ref="tree=MeSH" title="MedGen record for Acid sphingomyelinase deficiency">Acid sphingomyelinase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/1842316" ref="tree=MeSH" title="MedGen record for Chronic neurovisceral acid sphingomyelinase deficiency">Chronic neurovisceral acid sphingomyelinase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/82781" ref="tree=MeSH" title="MedGen record for Niemann-Pick disease type E">Niemann-Pick disease type E</a></span></li><li><span class="TLline"><a href="/medgen/78650" ref="tree=MeSH" title="MedGen record for Niemann-Pick disease, type A">Niemann-Pick disease, type A</a></span></li><li><span class="TLline"><a href="/medgen/78651" ref="tree=MeSH" title="MedGen record for Niemann-Pick disease, type B">Niemann-Pick disease, type B</a></span></li><li><span class="TLline"><a href="/medgen/67399" ref="tree=MeSH" title="MedGen record for Niemann-Pick disease, type C">Niemann-Pick disease, type C</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/78657" ref="tree=MeSH" title="MedGen record for Tay-Sachs disease, variant AB">Tay-Sachs disease, variant AB</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/10326" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis">Neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/7230" ref="tree=MeSH" title="MedGen record for Adult neuronal ceroid lipofuscinosis">Adult neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/320287" ref="tree=MeSH" title="MedGen record for Ceroid lipofuscinosis, neuronal, 4 (Kufs type)">Ceroid lipofuscinosis, neuronal, 4 (Kufs type)</a></span></li><li><span class="TLline"><a href="/medgen/1790423" ref="tree=MeSH" title="MedGen record for Ceroid lipofuscinosis, neuronal, 6A">Ceroid lipofuscinosis, neuronal, 6A</a></span></li><li><span class="TLline"><a href="/medgen/1794137" ref="tree=MeSH" title="MedGen record for Ceroid lipofuscinosis, neuronal, 6B (Kufs type)">Ceroid lipofuscinosis, neuronal, 6B (Kufs type)</a></span></li><li><span class="TLline"><a href="/medgen/340540" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 1">Neuronal ceroid lipofuscinosis 1</a></span></li><li><span class="TLline"><a href="/medgen/350481" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 10">Neuronal ceroid lipofuscinosis 10</a></span></li><li><span class="TLline"><a href="/medgen/761331" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 11">Neuronal ceroid lipofuscinosis 11</a></span></li><li><span class="TLline"><a href="/medgen/811566" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 13">Neuronal ceroid lipofuscinosis 13</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/351189" ref="tree=MeSH" title="MedGen record for Congenital neuronal ceroid lipofuscinosis">Congenital neuronal ceroid lipofuscinosis</a></span></li><li><span class="TLline"><a href="/medgen/75666" ref="tree=MeSH" title="MedGen record for Infantile neuronal ceroid lipofuscinosis">Infantile neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/388595" ref="tree=MeSH" title="MedGen record for Progressive myoclonic epilepsy type 3">Progressive myoclonic epilepsy type 3</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/978346" ref="tree=MeSH" title="MedGen record for Juvenile neuronal ceroid lipofuscinosis">Juvenile neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/406281" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 2">Neuronal ceroid lipofuscinosis 2</a></span></li><li><span class="TLline"><a href="/medgen/155549" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 3">Neuronal ceroid lipofuscinosis 3</a></span></li><li><span class="TLline"><a href="/medgen/374004" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 8">Neuronal ceroid lipofuscinosis 8</a></span></li><li><span class="TLline"><a href="/medgen/332304" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 9">Neuronal ceroid lipofuscinosis 9</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9589" ref="tree=MeSH" title="MedGen record for Late-infantile neuronal ceroid lipofuscinosis">Late-infantile neuronal ceroid lipofuscinosis</a></span><ul><li><span class="TLline"><a href="/medgen/376792" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 5">Neuronal ceroid lipofuscinosis 5</a></span></li><li><span class="TLline"><a href="/medgen/325457" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 7">Neuronal ceroid lipofuscinosis 7</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/355328" ref="tree=MeSH" title="MedGen record for Neuronal ceroid lipofuscinosis 8 northern epilepsy variant">Neuronal ceroid lipofuscinosis 8 northern epilepsy variant</a></span></li><li><span class="TLline"><a href="/medgen/924712" ref="tree=MeSH" title="MedGen record for Neuronal Ceroid Lipofuscinosis Type 4B">Neuronal Ceroid Lipofuscinosis Type 4B</a></span></li><li><span class="TLline"><a href="/medgen/830971" ref="tree=MeSH" title="MedGen record for Parkinsonism due to ATP13A2 deficiency">Parkinsonism due to ATP13A2 deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/9698" ref="tree=MeSH" title="MedGen record for Norum disease">Norum disease</a></span></li><li><span class="TLline"><a href="/medgen/129185" ref="tree=MeSH" title="MedGen record for Peroxisomal disorder">Peroxisomal disorder</a></span><ul><li><span class="TLline"><a href="/medgen/75679" ref="tree=MeSH" title="MedGen record for Acatalasia">Acatalasia</a></span></li><li><span class="TLline"><a href="/medgen/507284" ref="tree=MeSH" title="MedGen record for CADDS">CADDS</a></span></li><li><span class="TLline"><a href="/medgen/79471" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata">Rhizomelic chondrodysplasia punctata</a></span><ul><li><span class="TLline"><a href="/medgen/347072" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 1">Rhizomelic chondrodysplasia punctata type 1</a></span></li><li><span class="TLline"><a href="/medgen/341734" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 2">Rhizomelic chondrodysplasia punctata type 2</a></span></li><li><span class="TLline"><a href="/medgen/374012" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 3">Rhizomelic chondrodysplasia punctata type 3</a></span></li><li><span class="TLline"><a href="/medgen/900333" ref="tree=MeSH" title="MedGen record for Rhizomelic chondrodysplasia punctata type 5">Rhizomelic chondrodysplasia punctata type 5</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/1737580" ref="tree=MeSH" title="MedGen record for PIGA Deficiency">PIGA Deficiency</a></span></li><li><span class="TLline"><a href="/medgen/473069" ref="tree=MeSH" title="MedGen record for Pyruvate kinase deficiency of red cells">Pyruvate kinase deficiency of red cells</a></span></li><li><span class="TLline"><a href="/medgen/19728" ref="tree=MeSH" title="MedGen record for Renal tubular transport disease">Renal tubular transport disease</a></span><ul><li><span class="TLline"><a href="/medgen/2172" ref="tree=MeSH" title="MedGen record for Bartter syndrome">Bartter syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/893350" ref="tree=MeSH" title="MedGen record for Antenatal Bartter syndrome">Antenatal Bartter syndrome</a></span></li><li><span class="TLline"><a href="/medgen/355727" ref="tree=MeSH" title="MedGen record for Bartter disease type 1">Bartter disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/343428" ref="tree=MeSH" title="MedGen record for Bartter disease type 2">Bartter disease type 2</a></span></li><li><span class="TLline"><a href="/medgen/335399" ref="tree=MeSH" title="MedGen record for Bartter disease type 3">Bartter disease type 3</a></span></li><li><span class="TLline"><a href="/medgen/934787" ref="tree=MeSH" title="MedGen record for Bartter disease type 5">Bartter disease type 5</a></span></li><li><span class="TLline"><a href="/medgen/355430" ref="tree=MeSH" title="MedGen record for Bartter disease type 4A">Bartter disease type 4A</a></span></li><li><span class="TLline"><a href="/medgen/934772" ref="tree=MeSH" title="MedGen record for Bartter disease type 4B">Bartter disease type 4B</a></span></li><li><span class="TLline"><a href="/medgen/824706" ref="tree=MeSH" title="MedGen record for Bartter syndrome type 4">Bartter syndrome type 4</a></span></li><li><span class="TLline"><a href="/medgen/811594" ref="tree=MeSH" title="MedGen record for Bartter syndrome with hypocalcemia">Bartter syndrome with hypocalcemia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/168056" ref="tree=MeSH" title="MedGen record for Dent disease">Dent disease</a></span><ul><li><span class="TLline"><a href="/medgen/336322" ref="tree=MeSH" title="MedGen record for Dent disease type 1">Dent disease type 1</a></span></li><li><span class="TLline"><a href="/medgen/336867" ref="tree=MeSH" title="MedGen record for Dent disease type 2">Dent disease type 2</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/75681" ref="tree=MeSH" title="MedGen record for Familial hypokalemia-hypomagnesemia">Familial hypokalemia-hypomagnesemia</a></span></li><li><span class="TLline"><a href="/medgen/757652" ref="tree=MeSH" title="MedGen record for Familial renal glucosuria">Familial renal glucosuria</a></span></li><li><span class="TLline"><a href="/medgen/4653" ref="tree=MeSH" title="MedGen record for Fanconi syndrome">Fanconi syndrome</a></span><ul><li><span class="TLline"><a href="/medgen/90966" ref="tree=MeSH" title="MedGen record for Acquired Fanconi syndrome">Acquired Fanconi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/137960" ref="tree=MeSH" title="MedGen record for Adult Fanconi syndrome">Adult Fanconi syndrome</a></span></li><li><span class="TLline"><a href="/medgen/341765" ref="tree=MeSH" title="MedGen record for Primary Fanconi syndrome">Primary Fanconi syndrome</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/67439" ref="tree=MeSH" title="MedGen record for Liddle syndrome">Liddle syndrome</a></span></li><li><span class="TLline"><a href="/medgen/18721" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism">Pseudohypoaldosteronism</a></span><ul><li><span class="TLline"><a href="/medgen/82805" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism type 1">Pseudohypoaldosteronism type 1</a></span></li><li><span class="TLline"><a href="/medgen/259599" ref="tree=MeSH" title="MedGen record for Pseudohypoaldosteronism, type 2">Pseudohypoaldosteronism, type 2</a></span></li><li><span class="TLline"><a href="/medgen/900190" ref="tree=MeSH" title="MedGen record for Transient pseudohypoaldosteronism">Transient pseudohypoaldosteronism</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/254" ref="tree=MeSH" title="MedGen record for Renal aminoaciduria">Renal aminoaciduria</a></span><ul><li><span class="TLline"><a href="/medgen/8226" ref="tree=MeSH" title="MedGen record for Cystinuria">Cystinuria</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/90" ref="tree=MeSH" title="MedGen record for Renal tubular acidosis">Renal tubular acidosis</a></span><ul><li><span class="TLline"><a href="/medgen/347681" ref="tree=MeSH" title="MedGen record for Bicarbonate-wasting renal tubular acidosis">Bicarbonate-wasting renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/853429" ref="tree=MeSH" title="MedGen record for Distal renal tubular acidosis">Distal renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/82804" ref="tree=MeSH" title="MedGen record for Proximal renal tubular acidosis">Proximal renal tubular acidosis</a></span></li><li><span class="TLline"><a href="/medgen/885579" ref="tree=MeSH" title="MedGen record for Renal Tubular Acidosis Associated With Deafness">Renal Tubular Acidosis Associated With Deafness</a></span></li></ul></li></ul></li><li><span class="TLline"><a href="/medgen/219772" ref="tree=MeSH" title="MedGen record for Steroid inherited metabolic disorder">Steroid inherited metabolic disorder</a></span><ul><li><span class="TLline"><a href="/medgen/389937" ref="tree=MeSH" title="MedGen record for Antley-Bixler Syndrome Phenotype">Antley-Bixler Syndrome Phenotype</a></span></li><li><span class="TLline"><a href="/medgen/90983" ref="tree=MeSH" title="MedGen record for Apparent mineralocorticoid excess">Apparent mineralocorticoid excess</a></span></li><li><span class="TLline"><a href="/medgen/7900" ref="tree=MeSH" title="MedGen record for Congenital adrenal hyperplasia">Congenital adrenal hyperplasia</a></span><ul><li><span class="TLline"><a href="/medgen/452446" ref="tree=MeSH" title="MedGen record for 3 beta-Hydroxysteroid dehydrogenase deficiency">3 beta-Hydroxysteroid dehydrogenase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/925006" ref="tree=MeSH" title="MedGen record for Adrenal Gland Hyperplasia II">Adrenal Gland Hyperplasia II</a></span></li><li><span class="TLline"><a href="/medgen/461449" ref="tree=MeSH" title="MedGen record for Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis">Antley-Bixler syndrome with genital anomalies and disordered steroidogenesis</a></span></li><li><span class="TLline"><a href="/medgen/1390311" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia">Classic congenital adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/424833" ref="tree=MeSH" title="MedGen record for Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency">Classic congenital adrenal hyperplasia due to 21-hydroxylase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/348008" ref="tree=MeSH" title="MedGen record for Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency">Congenital adrenal hyperplasia due to cytochrome P450 oxidoreductase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/83341" ref="tree=MeSH" title="MedGen record for Congenital lipoid adrenal hyperplasia due to STAR deficency">Congenital lipoid adrenal hyperplasia due to STAR deficency</a></span></li><li><span class="TLline"><a href="/medgen/82783" ref="tree=MeSH" title="MedGen record for Deficiency of steroid 11-beta-monooxygenase">Deficiency of steroid 11-beta-monooxygenase</a></span></li><li><span class="TLline"><a href="/medgen/82782" ref="tree=MeSH" title="MedGen record for Deficiency of steroid 17-alpha-monooxygenase">Deficiency of steroid 17-alpha-monooxygenase</a></span></li><li><span class="TLline"><a href="/medgen/137971" ref="tree=MeSH" title="MedGen record for Macronodular adrenal hyperplasia">Macronodular adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/575066" ref="tree=MeSH" title="MedGen record for Micronodular adrenal hyperplasia">Micronodular adrenal hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/926241" ref="tree=MeSH" title="MedGen record for Multinodular Adrenal Hyperplasia">Multinodular Adrenal Hyperplasia</a></span></li><li><span class="TLline"><a href="/medgen/90982" ref="tree=MeSH" title="MedGen record for Non-classic congenital adrenal hyperplasia">Non-classic congenital adrenal hyperplasia</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/86937" ref="tree=MeSH" title="MedGen record for X-linked ichthyosis with steryl-sulfatase deficiency">X-linked ichthyosis with steryl-sulfatase deficiency</a></span></li></ul></li><li><span class="TLline"><a href="/medgen/220924" ref="tree=MeSH" title="MedGen record for Sucrase-isomaltase deficiency">Sucrase-isomaltase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/349893" ref="tree=MeSH" title="MedGen record for Triosephosphate isomerase deficiency">Triosephosphate isomerase deficiency</a></span></li><li><span class="TLline"><a href="/medgen/574095" ref="tree=MeSH" title="MedGen record for Uridine monophosphate hydrolase deficiency">Uridine monophosphate hydrolase deficiency</a></span></li></ul></li></ul></li></ul></li></ul></div></div></div></div>
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</div>
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<div class="portlet mgSection" id="ID_105">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Professional_guidelines">Professional guidelines</h1><a sid="105" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln"><h3 class="subhead">PubMed<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpPM"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3>
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<div class="nl"><a target="_blank" href="/pubmed/37704344">Newborn Screening.</a></div>
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||
<div class="portlet_content ln"><span class="medgenPMauthor">Pappas KB</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2023 Oct;70(5):1013-1027.
|
||
doi: 10.1016/j.pcl.2023.06.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37704344" target="_blank">37704344</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34097229">Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balakrishnan U</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2021 Jul;88(7):679-689.
|
||
Epub 2021 Jun 7
|
||
doi: 10.1007/s12098-021-03759-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34097229" target="_blank">34097229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29502909">Inborn Errors of Metabolism Overview: Pathophysiology, Manifestations, Evaluation, and Management.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Saudubray JM,
|
||
Garcia-Cazorla À</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2018 Apr;65(2):179-208.
|
||
doi: 10.1016/j.pcl.2017.11.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29502909" target="_blank">29502909</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22inborn%20errors%20of%20metabolism%22%5Btiab%3A~0%5D)%20AND%20(%22english%20and%20humans%22%5BFilter%5D)%20AND%20(%20(%22practice%20guideline%22%5BFilter%5D)%20OR%20(practice*%5Btitl%5D%20AND%20(guideline%5Btitl%5D%20OR%20parameter%5Btitl%5D%20OR%20resource%5Btitl%5D%20OR%20bulletin%5Btitl%5D%20OR%20best%5Btitl%5D))%20OR%20(genetic*%5Btitl%5D%20AND%20(evaluation%5Btitl%5D%20OR%20counseling%5Btitl%5D%20OR%20screening%5Btitl%5D%20OR%20test*%5Btitl%5D))%20OR%20(clinical%5Btitl%5D%20AND%20((expert%5Btitl%5D%20AND%20consensus%5Btitl%5D)%20OR%20utility%5Btitl%5D%20OR%20guideline*%5Btitl%5D))%20OR%20(management%5Btitl%5D%20AND%20(clinical%5Btitl%5D%20OR%20diagnos*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20pain%5Btitl%5D%20OR%20surveillance%5Btitl%5D%20OR%20emergency%5Btitl%5D%20OR%20guideline*%5Btitl%5D%20OR%20therap*))%20OR%20(treatment%5Btitl%5D%20AND%20((evaluation%5Btitl%5D%20AND%20diagnosis%5Btitl%5D)%20OR%20(assessment%5Btitl%5D%20AND%20prevention%5Btitl%5D)%20OR%20therap*))%20OR%20(Diagnos*%5Btitl%5D%20AND%20(prenatal%5Btitl%5D%20OR%20treatment%5Btitl%5D%20OR%20follow-up%5Btitl%5D%20OR%20statement%5Btitl%5D%20OR%20criteria%5Btitl%5D%20OR%20newborn%5Btitl%5D%20OR%20differential%5Btitl%5D%20OR%20neonatal%5Btitl%5D%20OR%20neonate%5Btitl%5D))%20OR%20(guideline*%5Btitl%5D%20AND%20(pharmacogenetic*%5Btitl%5D%20OR%20recommendation%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20evidence-based%5Btitl%5D%20OR%20consensus%5Btitl%5D%20OR%20(technical%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20(molecular%5Btitl%5D%20AND%20testing%5Btitl%5D)))%20OR%20(risk%5Btitl%5D%20AND%20assessment%5Btitl%5D)%20OR%20(recommendation*%5Btitl%5D%20AND%20(statement%5Btitl%5D%20OR%20Evidence-based%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(care%20AND%20((Patient%5Btitl%5D%20AND%20standard*%5Btitl%5D)%20OR%20primary%5Btitl%5D%20OR%20psychosocial%5Btitl%5D))%20OR%20(Health%5Btitl%5D%20AND%20supervision%5Btitl%5D)%20OR%20(statement%5Btitl%5D%20AND%20(policy%5Btitl%5D%20OR%20position%5Btitl%5D%20OR%20Consensus%5Btitl%5D))%20OR%20(pharmacogenetics%5Btitl%5D%20AND%20(Dosing%5Btitl%5D%20OR%20therap*%5Btitl%5D%20OR%20genotype*%5Btitl%5D%20OR%20drug*%5Btitl%5D))%20OR%20(Chemotherapy%5Btitl%5D%20AND%20decision*%5Btitl%5D)%20OR%20(screening%5Btitl%5D%20AND%20(newborn%5Btitl%5D%20OR%20neonat*%5Btitl%5D%20OR%20detection%5Btitl%5D%20OR%20diagnos*%5Btitl%5D))%20OR%20(criteria%5Btitl%5D%20OR%20genotype*%5Btitl%5D)%20)%20NOT%20(%22Case%20reports%22%5BPublication%20type%5D%20OR%20%22clinical%20study%22%5BPublication%20Type%5D%20OR%20%22randomized%20controlled%20trial%22%5BPublication%20Type%5D)" title="PubMed search">See all (440)</a></div></div>
|
||
</div>
|
||
<div class="display-none help-popup" id="guidelinesHelpPM">These guidelines are articles in PubMed that match specific search criteria developed by MedGen to capture the most relevant practice guidelines. This list may not be comprehensive and may include broader topics as well. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div><div class="display-none help-popup" id="guidelinesHelpCurated">These guidelines are manually curated by the MedGen team
|
||
to supplement articles available in PubMed. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div>
|
||
<div class="portlet mgSection" id="ID_103">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_clinical_studies">Recent clinical studies</h1><a sid="103" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><h3 class="subhead">Etiology</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34097229">Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balakrishnan U</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2021 Jul;88(7):679-689.
|
||
Epub 2021 Jun 7
|
||
doi: 10.1007/s12098-021-03759-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34097229" target="_blank">34097229</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32409005">Rare causes of hypoglycemia in adults.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Douillard C,
|
||
Jannin A,
|
||
Vantyghem MC</span><br />
|
||
<span class="medgenPMjournal">Ann Endocrinol (Paris)</span>
|
||
2020 Jun;81(2-3):110-117.
|
||
Epub 2020 Apr 10
|
||
doi: 10.1016/j.ando.2020.04.003.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32409005" target="_blank">32409005</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31324325">Inborn errors of metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ferreira CR,
|
||
van Karnebeek CDM</span><br />
|
||
<span class="medgenPMjournal">Handb Clin Neurol</span>
|
||
2019;162:449-481.
|
||
doi: 10.1016/B978-0-444-64029-1.00022-9.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31324325" target="_blank">31324325</a><a href="/pmc/articles/PMC11755387" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/29502911">Inborn Errors of Metabolism with Hyperammonemia: Urea Cycle Defects and Related Disorders.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Summar ML,
|
||
Mew NA</span><br />
|
||
<span class="medgenPMjournal">Pediatr Clin North Am</span>
|
||
2018 Apr;65(2):231-246.
|
||
Epub 2018 Feb 2
|
||
doi: 10.1016/j.pcl.2017.11.004.
|
||
<span class="bold">PMID: </span><a href="/pubmed/29502911" target="_blank">29502911</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/1749210">Detoxification pathways in the liver.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Grant DM</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1991;14(4):421-30.
|
||
doi: 10.1007/BF01797915.
|
||
<span class="bold">PMID: </span><a href="/pubmed/1749210" target="_blank">1749210</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20errors%20of%20metabolism%22%20AND%20Etiology%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (1273)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/34097229">Inborn Errors of Metabolism-Approach to Diagnosis and Management in Neonates.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Balakrishnan U</span><br />
|
||
<span class="medgenPMjournal">Indian J Pediatr</span>
|
||
2021 Jul;88(7):679-689.
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<div class="nl"><a target="_blank" href="/pubmed/37020324">Exploring genotype-phenotype correlations in glutaric aciduria type 1.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guéant JL,
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Guéant-Rodriguez RM,
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Oussalah A,
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Zuily S,
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<div class="nl"><a target="_blank" href="/pubmed/27760454">Bisphosphonate therapy for osteogenesis imperfecta.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Dwan K,
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Phillipi CA,
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<span class="bold">PMID: </span><a href="/pubmed/27760454" target="_blank">27760454</a><a href="/pmc/articles/PMC6611487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20errors%20of%20metabolism%22%20AND%20Clinical%20prediction%20guides%2Fbroad%5Bfilter%5D%20%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (698)</a></div></div>
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<div class="portlet mgSection" id="ID_104">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Recent_systematic_reviews">Recent systematic reviews</h1><a sid="104" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln">
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<div class="nl"><a target="_blank" href="/pubmed/37308883">Chinese genetic variation database of inborn errors of metabolism: a systematic review of published variants in 13 genes.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Guo Y,
|
||
Jiang J,
|
||
Xu Z</span><br />
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<span class="medgenPMjournal">Orphanet J Rare Dis</span>
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2023 Jun 12;18(1):148.
|
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doi: 10.1186/s13023-023-02726-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37308883" target="_blank">37308883</a><a href="/pmc/articles/PMC10262587" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37239976">Metabolic Cardiomyopathies and Cardiac Defects in Inherited Disorders of Carbohydrate Metabolism: A Systematic Review.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Conte F,
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Sam JE,
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Lefeber DJ,
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Passier R</span><br />
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<span class="medgenPMjournal">Int J Mol Sci</span>
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2023 May 11;24(10)
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doi: 10.3390/ijms24108632.
|
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<span class="bold">PMID: </span><a href="/pubmed/37239976" target="_blank">37239976</a><a href="/pmc/articles/PMC10218694" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/34403026">Neonatal seizures as onset of Inborn Errors of Metabolism (IEMs): from diagnosis to treatment. A systematic review.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Falsaperla R,
|
||
Sciuto L,
|
||
La Spina L,
|
||
Sciuto S,
|
||
Praticò AD,
|
||
Ruggieri M</span><br />
|
||
<span class="medgenPMjournal">Metab Brain Dis</span>
|
||
2021 Dec;36(8):2195-2203.
|
||
Epub 2021 Aug 17
|
||
doi: 10.1007/s11011-021-00798-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/34403026" target="_blank">34403026</a><a href="/pmc/articles/PMC8580891" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27760454">Bisphosphonate therapy for osteogenesis imperfecta.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Dwan K,
|
||
Phillipi CA,
|
||
Steiner RD,
|
||
Basel D</span><br />
|
||
<span class="medgenPMjournal">Cochrane Database Syst Rev</span>
|
||
2016 Oct 19;10(10):CD005088.
|
||
doi: 10.1002/14651858.CD005088.pub4.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27760454" target="_blank">27760454</a><a href="/pmc/articles/PMC6611487" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25157020">Comprehensive evaluation of the child with intellectual disability or global developmental delays.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moeschler JB,
|
||
Shevell M;
|
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<span class="medgenPMjournal">Pediatrics</span>
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2014 Sep;134(3):e903-18.
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<span class="bold">PMID: </span><a href="/pubmed/25157020" target="_blank">25157020</a><a href="/pmc/articles/PMC9923626" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Inborn%20errors%20of%20metabolism%22%20AND%20systematic%5Bsb%5D%20AND%20%22english%20and%20humans%22%5Bfilter%5D%20NOT%20comment%5BPTYP%5D%20NOT%20letter%5BPTYP%5D" title="PubMed search">See all (92)</a></div></div>
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<li><a href="/gtr/tests?term=C0025521%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (2)</a></li>
|
||
<li><a href="/gtr/tests?term=C0025521%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (2)</a></li>
|
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<li><a href="/gtr/tests?term=C0025521%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (1)</a></li>
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<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0025521%5bDISCUI%5d" target="_blank">See all (3)</a></total></li>
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