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<meta name="keywords" content="C0268575, acidemia, isovaleric, disease or syndrome, isovaleric acid coa dehydrogenase deficiency, isovaleric acid-coa dehydrogenase deficiency, isovaleric acidemia, isovaleric aciduria, isovalericacidemia, isovaleryl coa carboxylase deficiency, isovaleryl-coa dehydrogenase deficiency, isovaleryl-coenzyme a dehydrogenase deficiency, iva, ivd, ivd deficiency, ivd-gene related isovaleryl-coenzyme a dehydrogenase deficiency, autosomal dominant, autosomal recessive, birth defects, chromosomal disease, chromosome, clinical features, clinical findings, clinical genetics, clinical recommendations, clinvar, congenital chromosomal disease, consumer genetic resources, cytogenetic location, disease characteristics, disease definitions, disease descriptions, disease ontology, disease synonyms, disease vocabulary, dysmorphology, entrez, familial disease, gene, gene-disease relationship, genereviews, genetic disease, genetic disorder, genetic terminology, genetic testing registry, genetics home reference, genomic disease, gtr, hereditary disease, heritable disease, hpo, human phenotype ontology, inherited disease, management guidelines, maternal inheritance, medgen, medical genetics, medical subject headings, mesh, mitochondrial inheritance, mode of inheritance, national center for biotechnology information, national institutes of health, national library of medicine, ncbi, nih, nlm, omim, ordo, orphanet, paternal inheritance, phenome, position statements, professional practice guidelines, rare disease, reference sequence, refseq, snomed ct, syndrome, undiagnosed diseases, x-linked recessive" /><meta name="description" content="Individuals with clinical manifestations of isovaleric acidemia (IVA) have either classic IVA identified on newborn screening or classic IVA with a later diagnosis due to a missed diagnosis or later onset of clinical manifestations. Classic IVA is characterized by acute metabolic decompensations (vomiting, poor feeding, lethargy, hypotonia, seizures, and a distinct odor of sweaty feet). Acute metabolic decompensations are typically triggered by fasting, (febrile) illness (especially gastroenteritis), or increased protein intake. Clinical deterioration often occurs within hours to days after birth. Additional manifestations of classic IVA include developmental delay, intellectual disability and/or impaired cognition, epilepsy, and movement disorder (tremor, dysmetria, extrapyramidal movements). Early treatment in those identified by newborn screening can significantly reduce morbidity and mortality in individuals with classic IVA." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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UID=82822
|
||
ConceptID=C0268575
|
||
-->
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<!--imgCountBooks = 2--><div class="ncbi_carousel" data-ncbicarousel-config="imageWidth:'100px',numItemsVisible:2,toggler:false"><div class="nc_header"><span class="img_strip_title">Images (2)</span></div><div class="nc_content"><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK601614/bin/isovaleric-a-Image002.gif" src-large="/books/NBK601614/bin/isovaleric-a-Image002.jpg" /></a><br /><a href="/books/NBK601614/figure/isovaleric-a.F2/" title="GeneReviews" target="_blank">details</a></div><div class="nc_item"><a class="figpopup"><img alt="Image from GeneReviews" src="/books/NBK601614/bin/isovaleric-a-Image001.gif" src-large="/books/NBK601614/bin/isovaleric-a-Image001.jpg" /></a><br /><a href="/books/NBK601614/figure/isovaleric-a.F1/" title="GeneReviews" target="_blank">details</a></div></div></div><h1 class="medgenTitle"><div class="MedGenTitleText">Isovaleryl-CoA dehydrogenase deficiency<span class="h1sub">(IVA)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>82822</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.">C0268575</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div><table class="medgenTable"><tbody><tr><td>Synonyms:</td>
|
||
<td>ISOVALERIC ACID CoA DEHYDROGENASE DEFICIENCY; Isovaleric acidemia; Isovaleryl CoA carboxylase deficiency; IVA; IVD DEFICIENCY</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Isovaleric acid-CoA dehydrogenase deficiency (87827003); Isovaleryl-CoA dehydrogenase deficiency (87827003); Isovaleric acidemia (87827003); Isovaleric acid CoA dehydrogenase deficiency (87827003); Isovaleryl-coenzyme A dehydrogenase deficiency (87827003); IVD-gene related isovaleryl-coenzyme A dehydrogenase deficiency (87827003)</td></tr>
|
||
<tr><td>Modes of inheritance:</td>
|
||
<td>
|
||
<div class="divPopper rprt" id="moi_141025"><div><strong>Autosomal recessive inheritance</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>141025</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.">C0441748</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Intellectual Product</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Source: Orphanet</div>
|
||
<div class="spaceAbove">A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).</div></div>
|
||
<div class="hangingIndent"><a title="click for more information" class="jig-ncbipopper" href="#moi_141025" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Autosomal recessive inheritance</a><span> (Orphanet)</span></div></td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td><a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#target-gene-loc">Gene (location):<img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a><div class="display-none" id="target-gene-loc">
|
||
Gene(s) directly associated with<br />
|
||
this condition or phenotype.</div></td>
|
||
<td><a target="_blank" title="IVD - ID: 3712 - NCBI Gene" href="/gene/3712" class="medgenPMinfo">IVD</a> (15q15.1)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0009475" target="_blank">MONDO:0009475</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/243500" target="_blank">243500</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=33">ORPHA33</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_101">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Disease_characteristics">Disease characteristics</h1><a sid="101" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="excerpt">Excerpted from the <i>GeneReview: </i><a href="/books/NBK601614" target="_blank">Classic Isovaleric Acidemia</a></div><div>Individuals with clinical manifestations of isovaleric acidemia (IVA) have either classic IVA identified on newborn screening or classic IVA with a later diagnosis due to a missed diagnosis or later onset of clinical manifestations. Classic IVA is characterized by acute metabolic decompensations (vomiting, poor feeding, lethargy, hypotonia, seizures, and a distinct odor of sweaty feet). Acute metabolic decompensations are typically triggered by fasting, (febrile) illness (especially gastroenteritis), or increased protein intake. Clinical deterioration often occurs within hours to days after birth. Additional manifestations of classic IVA include developmental delay, intellectual disability and/or impaired cognition, epilepsy, and movement disorder (tremor, dysmetria, extrapyramidal movements). Early treatment in those identified by newborn screening can significantly reduce morbidity and mortality in individuals with classic IVA. [from <a title="GeneReviews" href="https://www.ncbi.nlm.nih.gov/books/NBK1116" class="defSource" target="_blank">GeneReviews</a>]</div><div class="spaceAbove"><strong>Full text of <i>GeneReview</i> (by section):</strong><br /><a class="medgenPMinfo" href="/books/NBK601614#isovaleric-a.Summary" target="NBK601614">Summary</a> | <a class="medgenPMinfo" href="/books/NBK601614#isovaleric-a.Diagnosis" target="NBK601614">Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK601614#isovaleric-a.Clinical_Characteristics" target="NBK601614">Clinical Characteristics</a> | <a class="medgenPMinfo" href="/books/NBK601614#isovaleric-a.Genetically_Related_Allelic" target="NBK601614">Genetically Related (Allelic) Disorders</a> | <a class="medgenPMinfo" href="/books/NBK601614#isovaleric-a.Differential_Diagnosis" target="NBK601614">Differential Diagnosis</a> | <a class="medgenPMinfo" href="/books/NBK601614#isovaleric-a.Management" target="NBK601614">Management</a> | <a class="medgenPMinfo" href="/books/NBK601614#isovaleric-a.Genetic_Counseling" target="NBK601614">Genetic Counseling</a> | <a class="medgenPMinfo" href="/books/NBK601614#isovaleric-a.Resources" target="NBK601614">Resources</a> | <a class="medgenPMinfo" href="/books/NBK601614#isovaleric-a.Molecular_Genetics" target="NBK601614">Molecular Genetics</a> | <a class="medgenPMinfo" href="/books/NBK601614#isovaleric-a.Chapter_Notes" target="NBK601614">Chapter Notes</a> | <a class="medgenPMinfo" href="/books/NBK601614#isovaleric-a.References" target="NBK601614">References</a></div><div class="spaceAbove"><strong>Authors:</strong><br />
|
||
Ulrike Mütze | Anna Reischl-Hajiabadi | Stefan Kölker <a href="/books/NBK601614" target="NBK601614" title="NCBI Bookshelf: Classic Isovaleric Acidemia">view full author information</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_117">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_descriptions">Additional descriptions</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From OMIM</strong><br />Isovaleric acidemia (IVA) is an inborn error of leucine metabolism caused by a deficiency of isovaleryl-CoA dehydrogenase. It can present with severe neonatal ketoacidosis leading to death, but in milder cases recurrent episodes of ketoacidosis of varying degree occur later in infancy and childhood (summary by Vockley et al., 1991). <a target="_blank" href="http://www.omim.org/entry/243500">http://www.omim.org/entry/243500</a></div><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Isovaleric acidemia is a rare disorder in which the body is unable to properly break down a particular protein building block (amino acid). The condition is classified as an organic acid disorder, which is a condition that leads to an abnormal buildup of particular acids known as organic acids. Abnormal levels of organic acids in the blood (organic acidemia), urine (organic aciduria), and tissues can be toxic and can cause serious health problems.<br /><br />Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for growth and development. People with isovaleric acidemia have inadequate levels of an enzyme that helps break down a particular amino acid called leucine.<br /><br />Health problems related to isovaleric acidemia range from very mild to life-threatening. In severe cases, the features of isovaleric acidemia become apparent within a few days after birth. The initial symptoms include poor feeding, vomiting, seizures, and lack of energy (lethargy). These symptoms sometimes progress to more serious medical problems, including seizures, coma, and possibly death. A characteristic sign of isovaleric acidemia is a distinctive odor of sweaty feet during acute illness. This odor is caused by the buildup of a compound called isovaleric acid in affected individuals.<br /><br />In other cases, the signs and symptoms of isovaleric acidemia appear during childhood and may come and go over time. Children with this condition may fail to gain weight and grow at the expected rate (failure to thrive) and often have delayed development. In these children, episodes of more serious health problems can be triggered by prolonged periods without food (fasting), infections, or eating an increased amount of protein-rich foods.<br /><br />Some people with gene mutations that cause isovaleric acidemia are asymptomatic, which means they never experience any signs or symptoms of the condition. <a target="_blank" href="https://medlineplus.gov/genetics/condition/isovaleric-acidemia">https://medlineplus.gov/genetics/condition/isovaleric-acidemia</a></div></div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_102">
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_features">Clinical features</h1><a sid="102" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
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<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
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<div class="divPopper rprt" id="clin_1054000"><div><strong>Sweaty foot-like odor</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1054000</dd><dt><span class="dotprefix"> •</span>Concept ID: </dt><dd><a href="/medgen/docs/help/#sources" target="_blank" title="Concept Unique Identifier assigned by MedGen (starting with CN) for terms that cannot be identified in NLM's Unified Medical Language system (UMLS) Click for more information.">CN378412</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A characteristic smell said to resemble the odor of dirty socks.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1054000">Feature record</a> | <a href="/medgen?term=%22Sweaty%20foot-like%20odor%22%5BClinical%20Features%5D%20OR%201054000%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_107456"><div><strong>Hyperglycinuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107456</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.">C0543541</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The imino acids, proline and hydroxyproline, share a renal tubular reabsorptive mechanism with glycine. Iminoglycinuria (IG; 242600), a benign inborn error of amino acid transport, is also a normal finding in neonates and infants under 6 months of age (Chesney, 2001). Early studies of families with iminoglycinuria suggested genetic complexity, with homozygotes developing IG and heterozygotes manifesting only hyperglycinuria (HG) (summary by Broer et al., 2008). A phenotype of combined glucosuria and glycinuria has been described (see 138070).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107456">Feature record</a> | <a href="/medgen?term=%22Hyperglycinuria%22%5BClinical%20Features%5D%20OR%20107456%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1863643"><div><strong>Elevated urinary isovalerylglycine level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1863643</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.">C5937357</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">The amount of isovalerylglycine in the urine, normalized for urine concentration, is above the upper limit of normal.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1863643">Feature record</a> | <a href="/medgen?term=%22Elevated%20urinary%20isovalerylglycine%20level%22%5BClinical%20Features%5D%20OR%201863643%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_488779"><div><strong>Cerebellar hemorrhage</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>488779</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.">C0149854</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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<div class="spaceAbove">Hemorrhage into the parenchyma of the cerebellum.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/488779">Feature record</a> | <a href="/medgen?term=%22Cerebellar%20hemorrhage%22%5BClinical%20Features%5D%20OR%20488779%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_12124"><div><strong>Vomiting</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>12124</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.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/12124">Feature record</a> | <a href="/medgen?term=%22Vomiting%22%5BClinical%20Features%5D%20OR%2012124%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1054"><div><strong>Coma</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1054</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.">C0009421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">The complete absence of wakefulness and consciousness, which is evident through a lack of response to any form of external stimuli.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1054">Feature record</a> | <a href="/medgen?term=%22Coma%22%5BClinical%20Features%5D%20OR%201054%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_7310"><div><strong>Lethargy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>7310</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.">C0023380</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">A state of fatigue, either physical or mental slowness and sluggishness, with difficulties in initiating or performing simple tasks. Distinguished from apathy which implies indifference and a lack of desire or interest in the task. A person with lethargy may have the desire, but not the energy to engage in personal or socially relevant tasks.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/7310">Feature record</a> | <a href="/medgen?term=%22Lethargy%22%5BClinical%20Features%5D%20OR%207310%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_20693"><div><strong>Seizure</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>20693</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.">C0036572</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
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<div class="spaceAbove">A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/20693">Feature record</a> | <a href="/medgen?term=%22Seizure%22%5BClinical%20Features%5D%20OR%2020693%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_107838"><div><strong>Global developmental delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>107838</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.">C0557874</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/107838">Feature record</a> | <a href="/medgen?term=%22Global%20developmental%20delay%22%5BClinical%20Features%5D%20OR%20107838%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_18281"><div><strong>Pancytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>18281</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.">C0030312</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormal reduction in numbers of all blood cell types (red blood cells, white blood cells, and platelets).</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/18281">Feature record</a> | <a href="/medgen?term=%22Pancytopenia%22%5BClinical%20Features%5D%20OR%2018281%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_52737"><div><strong>Thrombocytopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>52737</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.">C0040034</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A reduction in the number of circulating thrombocytes.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/52737">Feature record</a> | <a href="/medgen?term=%22Thrombocytopenia%22%5BClinical%20Features%5D%20OR%2052737%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_383749"><div><strong>Bone marrow hypocellularity</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>383749</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.">C1855710</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">A reduced number of hematopoietic cells present in the bone marrow relative to marrow fat.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/383749">Feature record</a> | <a href="/medgen?term=%22Bone%20marrow%20hypocellularity%22%5BClinical%20Features%5D%20OR%20383749%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_6073"><div><strong>Leukopenia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6073</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.">C0023530</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">An abnormal decreased number of leukocytes in the blood.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/6073">Feature record</a> | <a href="/medgen?term=%22Leukopenia%22%5BClinical%20Features%5D%20OR%206073%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_8273"><div><strong>Dehydration</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>8273</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.">C0011175</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">A condition resulting from the excessive loss of water from the body. It is usually caused by severe diarrhea, vomiting or diaphoresis.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/8273">Feature record</a> | <a href="/medgen?term=%22Dehydration%22%5BClinical%20Features%5D%20OR%208273%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_65117"><div><strong>Metabolic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>65117</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.">C0220981</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Pathologic Function</dd></dl></div></div></div>
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<div class="spaceAbove">Metabolic acidosis (MA) is characterized by a fall in blood pH due to a reduction of serum bicarbonate concentration. This can occur as a result of either the accumulation of acids (high anion gap MA) or the loss of bicarbonate from the gastrointestinal tract or the kidney (hyperchloremic MA). By definition, MA is not due to a respirary cause.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/65117">Feature record</a> | <a href="/medgen?term=%22Metabolic%20acidosis%22%5BClinical%20Features%5D%20OR%2065117%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_67434"><div><strong>Ketoacidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>67434</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.">C0220982</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
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<div class="spaceAbove">Acidosis resulting from accumulation of ketone bodies.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/67434">Feature record</a> | <a href="/medgen?term=%22Ketoacidosis%22%5BClinical%20Features%5D%20OR%2067434%5Buid%5D">Search on this feature</a></div></div>
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<div class="divPopper rprt" id="clin_1853198"><div><strong>Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853198</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.">C5872959</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
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<div class="spaceAbove">Activity of isovaleryl-CoA dehydrogenase (EC 1.3.99.10) below the lower limit of normal in cultured fibroblasts.</div>
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<div class="spaceAbove nowrap">See: <a href="/medgen/1853198">Feature record</a> | <a href="/medgen?term=%22Reduced%20isovaleryl%20CoA%20dehydrogenase%20activity%20in%20cultured%20fibroblasts%22%5BClinical%20Features%5D%20OR%201853198%5Buid%5D">Search on this feature</a></div></div><div class="TreeLite" data-jigconfig="closed: 1"><div class="concept-def"><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(".TreeLite","#ID_102").TreeLite().closeAll(); return false;">Hide all</a></div><ul><li><span class="TLline">Abnormality of blood and blood-forming tissues</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_383749" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Bone marrow hypocellularity</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_18281" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Pancytopenia</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_52737" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Thrombocytopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of metabolism/homeostasis</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_8273" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Dehydration</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_67434" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ketoacidosis</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_65117" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Metabolic acidosis</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1853198" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced isovaleryl CoA dehydrogenase activity in cultured fibroblasts</a></span></li></ul></li><li><span class="TLline">Abnormality of the cardiovascular system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_488779" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Cerebellar hemorrhage</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_12124" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Vomiting</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1863643" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated urinary isovalerylglycine level</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107456" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperglycinuria</a></span></li></ul></li><li><span class="TLline">Abnormality of the immune system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6073" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Leukopenia</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1054" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Coma</a></span></li><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_107838" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Global developmental delay</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_7310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Lethargy</a></span></li><li class="TLline">
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||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_20693" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Seizure</a></span></li></ul></li><li><span class="TLline">Constitutional symptom</span><ul><li class="TLline">
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<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1054000" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Sweaty foot-like odor</a></span></li></ul></li></ul></div></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>
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<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><li><a href="#tabORDO">Orphanet</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1263739[DISCUI]&test_type=Clinical" ref="ncbi_uid=468982">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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/468982" ref="tree=GTR&ncbi_uid=468982&link_uid=468982" title="View MedGen record for 'Disorder of organic acid metabolism'">Disorder of organic acid metabolism</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848561[DISCUI]&test_type=Clinical" ref="ncbi_uid=341256">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341256" target="_blank" href="/omim/277400">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1328/" ref="ncbi_uid=341256">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341256" ref="ncbi_uid=341256">V</a></span></span><span class="TLline"><a href="/medgen/341256" ref="tree=GTR&ncbi_uid=341256&link_uid=341256" title="View MedGen record for 'Cobalamin C disease'">Cobalamin C disease</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1536500[DISCUI]&test_type=Clinical" ref="ncbi_uid=280689">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=280689" target="_blank" href="/omim/203750">O</a></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=280689" ref="ncbi_uid=280689">V</a></span></span><span class="TLline"><a href="/medgen/280689" ref="tree=GTR&ncbi_uid=280689&link_uid=280689" title="View MedGen record for 'Deficiency of acetyl-CoA acetyltransferase'">Deficiency of acetyl-CoA acetyltransferase</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268601[DISCUI]&test_type=Clinical" ref="ncbi_uid=78692">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78692" target="_blank" href="/omim/246450">O</a></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=78692" ref="ncbi_uid=78692">V</a></span></span><span class="TLline"><a href="/medgen/78692" ref="tree=GTR&ncbi_uid=78692&link_uid=78692" title="View MedGen record for 'Deficiency of hydroxymethylglutaryl-CoA lyase'">Deficiency of hydroxymethylglutaryl-CoA lyase</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268595[DISCUI]&test_type=Clinical" ref="ncbi_uid=124337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=124337" target="_blank" href="/omim/231670">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK546575/" ref="ncbi_uid=124337">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=124337" ref="ncbi_uid=124337">V</a></span></span><span class="TLline"><a href="/medgen/124337" ref="tree=GTR&ncbi_uid=124337&link_uid=124337" title="View MedGen record for 'Glutaric aciduria, type 1'">Glutaric aciduria, type 1</a></span></li><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268575[DISCUI]&test_type=Clinical" ref="ncbi_uid=82822">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=82822" target="_blank" href="/omim/243500">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK601614/" ref="ncbi_uid=82822">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=82822" ref="ncbi_uid=82822">V</a></span></span><span class="TLline">Isovaleryl-CoA dehydrogenase deficiency</span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0024776[DISCUI]&test_type=Clinical" ref="ncbi_uid=6217">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=6217">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=6217" ref="ncbi_uid=6217">V</a></span></span><span class="TLline"><a href="/medgen/6217" ref="tree=GTR&ncbi_uid=6217&link_uid=6217" title="View MedGen record for 'Maple syrup urine disease'">Maple syrup urine disease</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/78690" ref="tree=GTR&ncbi_uid=78690&link_uid=78690" title="View MedGen record for 'Intermittent maple syrup urine disease'">Intermittent maple syrup urine disease</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855371[DISCUI]&test_type=Clinical" ref="ncbi_uid=343337">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=343337" target="_blank" href="/omim/248610">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=343337">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=343337" ref="ncbi_uid=343337">V</a></span></span><span class="TLline"><a href="/medgen/343337" ref="tree=GTR&ncbi_uid=343337&link_uid=343337" title="View MedGen record for 'Maple syrup urine disease type 2'">Maple syrup urine disease type 2</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855369[DISCUI]&test_type=Clinical" ref="ncbi_uid=383668">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=383668" target="_blank" href="/omim/248600">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=383668">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=383668" ref="ncbi_uid=383668">V</a></span></span><span class="TLline"><a href="/medgen/383668" ref="tree=GTR&ncbi_uid=383668&link_uid=383668" title="View MedGen record for 'Maple syrup urine disease type 1A'">Maple syrup urine disease type 1A</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C2930990[DISCUI]&test_type=Clinical" ref="ncbi_uid=443951">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=443951" target="_blank" href="/omim/248611">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1319/" ref="ncbi_uid=443951">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=443951" ref="ncbi_uid=443951">V</a></span></span><span class="TLline"><a href="/medgen/443951" ref="tree=GTR&ncbi_uid=443951&link_uid=443951" title="View MedGen record for 'Maple syrup urine disease type 1B'">Maple syrup urine disease type 1B</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet unavailable round" title="Clinical test">C</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 unavailable" title="ClinVar">V</span></span><span class="TLline"><a href="/medgen/199627" ref="tree=GTR&ncbi_uid=199627&link_uid=199627" title="View MedGen record for 'Thiamine-responsive maple syrup urine disease'">Thiamine-responsive maple syrup urine disease</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C4551505[DISCUI]&test_type=Clinical" ref="ncbi_uid=1633312">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=1633312" ref="ncbi_uid=1633312">V</a></span></span><span class="TLline"><a href="/medgen/1633312" ref="tree=GTR&ncbi_uid=1633312&link_uid=1633312" title="View MedGen record for 'Methylcrotonyl-CoA carboxylase deficiency'">Methylcrotonyl-CoA carboxylase deficiency</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268600[DISCUI]&test_type=Clinical" ref="ncbi_uid=78691">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=78691" target="_blank" href="/omim/210200">O</a></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=78691" ref="ncbi_uid=78691">V</a></span></span><span class="TLline"><a href="/medgen/78691" ref="tree=GTR&ncbi_uid=78691&link_uid=78691" title="View MedGen record for '3-methylcrotonyl-CoA carboxylase 1 deficiency'">3-methylcrotonyl-CoA carboxylase 1 deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1859499[DISCUI]&test_type=Clinical" ref="ncbi_uid=347898">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=347898" target="_blank" href="/omim/210210">O</a></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=347898" ref="ncbi_uid=347898">V</a></span></span><span class="TLline"><a href="/medgen/347898" ref="tree=GTR&ncbi_uid=347898&link_uid=347898" title="View MedGen record for '3-methylcrotonyl-CoA carboxylase 2 deficiency'">3-methylcrotonyl-CoA carboxylase 2 deficiency</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268583[DISCUI]&test_type=Clinical" ref="ncbi_uid=120654">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet unavailable" title="OMIM">O</span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1231/" ref="ncbi_uid=120654">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=120654" ref="ncbi_uid=120654">V</a></span></span><span class="TLline"><a href="/medgen/120654" ref="tree=GTR&ncbi_uid=120654&link_uid=120654" title="View MedGen record for 'Methylmalonic acidemia'">Methylmalonic acidemia</a></span><ul><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855100[DISCUI]&test_type=Clinical" ref="ncbi_uid=344419">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344419" target="_blank" href="/omim/251120">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1231/" ref="ncbi_uid=344419">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344419" ref="ncbi_uid=344419">V</a></span></span><span class="TLline"><a href="/medgen/344419" ref="tree=GTR&ncbi_uid=344419&link_uid=344419" title="View MedGen record for 'Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency'">Methylmalonic acidemia due to methylmalonyl-CoA epimerase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1848552[DISCUI]&test_type=Clinical" ref="ncbi_uid=341253">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=341253" target="_blank" href="/omim/277410">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/?term=(NBK1231%20OR%20NBK1328)%20AND%20gene%5Bbook%5D&showtype=onebook" ref="ncbi_uid=341253">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=341253" ref="ncbi_uid=341253">V</a></span></span><span class="TLline"><a href="/medgen/341253" ref="tree=GTR&ncbi_uid=341253&link_uid=341253" title="View MedGen record for 'Methylmalonic aciduria and homocystinuria type cblD'">Methylmalonic aciduria and homocystinuria type cblD</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855114[DISCUI]&test_type=Clinical" ref="ncbi_uid=344424">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344424" target="_blank" href="/omim/251000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1231/" ref="ncbi_uid=344424">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344424" ref="ncbi_uid=344424">V</a></span></span><span class="TLline"><a href="/medgen/344424" ref="tree=GTR&ncbi_uid=344424&link_uid=344424" title="View MedGen record for 'Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency'">Methylmalonic aciduria due to methylmalonyl-CoA mutase deficiency</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855109[DISCUI]&test_type=Clinical" ref="ncbi_uid=344422">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344422" target="_blank" href="/omim/251100">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1231/" ref="ncbi_uid=344422">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344422" ref="ncbi_uid=344422">V</a></span></span><span class="TLline"><a href="/medgen/344422" ref="tree=GTR&ncbi_uid=344422&link_uid=344422" title="View MedGen record for 'Methylmalonic aciduria, cblA type'">Methylmalonic aciduria, cblA type</a></span></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1855102[DISCUI]&test_type=Clinical" ref="ncbi_uid=344420">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=344420" target="_blank" href="/omim/251110">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK1231/" ref="ncbi_uid=344420">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=344420" ref="ncbi_uid=344420">V</a></span></span><span class="TLline"><a href="/medgen/344420" ref="tree=GTR&ncbi_uid=344420&link_uid=344420" title="View MedGen record for 'Methylmalonic aciduria, cblB type'">Methylmalonic aciduria, cblB type</a></span></li></ul></li><li class="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268579[DISCUI]&test_type=Clinical" ref="ncbi_uid=75694">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=75694" target="_blank" href="/omim/232000">O</a></span><span class="chiclet Gcolor" title="GeneReviews"><a target="_blank" href="/books/NBK92946/" ref="ncbi_uid=75694">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&from_uid=75694" ref="ncbi_uid=75694">V</a></span></span><span class="TLline"><a href="/medgen/75694" ref="tree=GTR&ncbi_uid=75694&link_uid=75694" title="View MedGen record for 'Propionic acidemia'">Propionic acidemia</a></span></li></ul></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842457" ref="tree=MeSH" title="MedGen record for Classic organic aciduria">Classic organic aciduria</a></span><ul><li><span class="matched_ds">Isovaleryl-CoA dehydrogenase deficiency</span></li></ul></li></ul></div></div><div id="tabORDO">Follow <a target="_blank" href="http://www.orpha.net/consor/cgi-bin/Disease_Classif.php?lng=EN&data_id=156&PatId=399&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Isovaleryl-CoA dehydrogenase deficiency</span> in Orphanet.</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/31241292">Epidemiology of rare diseases detected by newborn screening in the Czech Republic.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">David J,
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Chrastina P,
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Pešková K,
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Kožich V,
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Friedecký D,
|
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Adam T,
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Hlídková E,
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Vinohradská H,
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Novotná D,
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Hedelová M,
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Al Taji E,
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Holubová A,
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Skalická V,
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Macek M,
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Gaillyová R,
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Votava F</span><br />
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<span class="medgenPMjournal">Cent Eur J Public Health</span>
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2019 Jun;27(2):153-159.
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doi: 10.21101/cejph.a5441.
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<span class="bold">PMID: </span><a href="/pubmed/31241292" target="_blank">31241292</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22isovaleryl-coa%20dehydrogenase%20deficiency%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 (1)</a></div><h3 class="subhead">Curated<a class="help jig-ncbi-popper" data-jig="ncbipopper" href="#guidelinesHelpCurated"><img class="pulldown" src="//static.pubmed.gov/portal/portal3rc.fcgi/4223267/img/4204968" /></a></h3><h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/C5.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5 Acylcarnitine, Isovaleric Acidemia, 2022</a></h3>
|
||
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/C5-Algorithm.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Isovaleric Acidemia: Increased C5 (isolated), 2022</a></h3>
|
||
</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/39555752">Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou W,
|
||
Huang T,
|
||
Li H,
|
||
Gu M</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2024 Nov;12(11):e70034.
|
||
doi: 10.1002/mgg3.70034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39555752" target="_blank">39555752</a><a href="/pmc/articles/PMC11571094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33496032">Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mütze U,
|
||
Henze L,
|
||
Gleich F,
|
||
Lindner M,
|
||
Grünert SC,
|
||
Spiekerkoetter U,
|
||
Santer R,
|
||
Blessing H,
|
||
Thimm E,
|
||
Ensenauer R,
|
||
Weigel J,
|
||
Beblo S,
|
||
Arélin M,
|
||
Hennermann JB,
|
||
Marquardt T,
|
||
Marquardt I,
|
||
Freisinger P,
|
||
Krämer J,
|
||
Dieckmann A,
|
||
Weinhold N,
|
||
Keller M,
|
||
Walter M,
|
||
Schiergens KA,
|
||
Maier EM,
|
||
Hoffmann GF,
|
||
Garbade SF,
|
||
Kölker S</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jul;44(4):857-870.
|
||
Epub 2021 Feb 7
|
||
doi: 10.1002/jimd.12364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33496032" target="_blank">33496032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27012884">Prevention team.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hawkes N</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2016 Mar 24;352:i1680.
|
||
doi: 10.1136/bmj.i1680.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27012884" target="_blank">27012884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25642957">Anesthetic management of a patient with isovaleric acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lam H,
|
||
Kiberenge R,
|
||
Nguyen T,
|
||
Sobey JH,
|
||
Austin T</span><br />
|
||
<span class="medgenPMjournal">A A Case Rep</span>
|
||
2015 Feb 1;4(3):37-8.
|
||
doi: 10.1213/XAA.0000000000000096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25642957" target="_blank">25642957</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24291264">Surprising causes of C5-carnitine false positive results in newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boemer F,
|
||
Schoos R,
|
||
de Halleux V,
|
||
Kalenga M,
|
||
Debray FG</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2014 Jan;111(1):52-4.
|
||
Epub 2013 Nov 19
|
||
doi: 10.1016/j.ymgme.2013.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24291264" target="_blank">24291264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isovaleryl-CoA%20dehydrogenase%20deficiency%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 (20)</a></div><h3 class="subhead">Diagnosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39555752">Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou W,
|
||
Huang T,
|
||
Li H,
|
||
Gu M</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2024 Nov;12(11):e70034.
|
||
doi: 10.1002/mgg3.70034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39555752" target="_blank">39555752</a><a href="/pmc/articles/PMC11571094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33496032">Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mütze U,
|
||
Henze L,
|
||
Gleich F,
|
||
Lindner M,
|
||
Grünert SC,
|
||
Spiekerkoetter U,
|
||
Santer R,
|
||
Blessing H,
|
||
Thimm E,
|
||
Ensenauer R,
|
||
Weigel J,
|
||
Beblo S,
|
||
Arélin M,
|
||
Hennermann JB,
|
||
Marquardt T,
|
||
Marquardt I,
|
||
Freisinger P,
|
||
Krämer J,
|
||
Dieckmann A,
|
||
Weinhold N,
|
||
Keller M,
|
||
Walter M,
|
||
Schiergens KA,
|
||
Maier EM,
|
||
Hoffmann GF,
|
||
Garbade SF,
|
||
Kölker S</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jul;44(4):857-870.
|
||
Epub 2021 Feb 7
|
||
doi: 10.1002/jimd.12364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33496032" target="_blank">33496032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/27012884">Prevention team.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Hawkes N</span><br />
|
||
<span class="medgenPMjournal">BMJ</span>
|
||
2016 Mar 24;352:i1680.
|
||
doi: 10.1136/bmj.i1680.
|
||
<span class="bold">PMID: </span><a href="/pubmed/27012884" target="_blank">27012884</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25642957">Anesthetic management of a patient with isovaleric acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lam H,
|
||
Kiberenge R,
|
||
Nguyen T,
|
||
Sobey JH,
|
||
Austin T</span><br />
|
||
<span class="medgenPMjournal">A A Case Rep</span>
|
||
2015 Feb 1;4(3):37-8.
|
||
doi: 10.1213/XAA.0000000000000096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25642957" target="_blank">25642957</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24291264">Surprising causes of C5-carnitine false positive results in newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boemer F,
|
||
Schoos R,
|
||
de Halleux V,
|
||
Kalenga M,
|
||
Debray FG</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2014 Jan;111(1):52-4.
|
||
Epub 2013 Nov 19
|
||
doi: 10.1016/j.ymgme.2013.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24291264" target="_blank">24291264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isovaleryl-CoA%20dehydrogenase%20deficiency%22%20AND%20Diagnosis%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 (38)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/39555752">Newborn Screening for Isovaleric Acidemia: Treatment With Pivalate-Generating Antibiotics Contributed to False C5-Carnitine Positivity in a Chinese Population.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Zhou W,
|
||
Huang T,
|
||
Li H,
|
||
Gu M</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Genomic Med</span>
|
||
2024 Nov;12(11):e70034.
|
||
doi: 10.1002/mgg3.70034.
|
||
<span class="bold">PMID: </span><a href="/pubmed/39555752" target="_blank">39555752</a><a href="/pmc/articles/PMC11571094" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/37773296">Evaluating renin and aldosterone levels in children with organic acidemia-therapeutic experience with fludrocortisone.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Tarçın G,
|
||
Ahmadzada S,
|
||
Saygılı S,
|
||
Kaya A,
|
||
Aktuğlu Zeybek AÇ,
|
||
Ercan O</span><br />
|
||
<span class="medgenPMjournal">Eur J Pediatr</span>
|
||
2023 Dec;182(12):5447-5453.
|
||
Epub 2023 Sep 29
|
||
doi: 10.1007/s00431-023-05221-8.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37773296" target="_blank">37773296</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26428892">Elevation of pivaloylcarnitine by sivelestat sodium in two children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamada K,
|
||
Kobayashi H,
|
||
Bo R,
|
||
Takahashi T,
|
||
Hasegawa Y,
|
||
Nakamura M,
|
||
Ishige N,
|
||
Yamaguchi S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Nov;116(3):192-4.
|
||
Epub 2015 Sep 26
|
||
doi: 10.1016/j.ymgme.2015.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26428892" target="_blank">26428892</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/25642957">Anesthetic management of a patient with isovaleric acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lam H,
|
||
Kiberenge R,
|
||
Nguyen T,
|
||
Sobey JH,
|
||
Austin T</span><br />
|
||
<span class="medgenPMjournal">A A Case Rep</span>
|
||
2015 Feb 1;4(3):37-8.
|
||
doi: 10.1213/XAA.0000000000000096.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25642957" target="_blank">25642957</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/24291264">Surprising causes of C5-carnitine false positive results in newborn screening.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Boemer F,
|
||
Schoos R,
|
||
de Halleux V,
|
||
Kalenga M,
|
||
Debray FG</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2014 Jan;111(1):52-4.
|
||
Epub 2013 Nov 19
|
||
doi: 10.1016/j.ymgme.2013.11.005.
|
||
<span class="bold">PMID: </span><a href="/pubmed/24291264" target="_blank">24291264</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isovaleryl-CoA%20dehydrogenase%20deficiency%22%20AND%20Therapy%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 (8)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37702673">A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen W,
|
||
Miao C,
|
||
Li Y,
|
||
Wang X,
|
||
Wu W,
|
||
Long Q,
|
||
Jiang Y,
|
||
Yan Z,
|
||
Cui Y</span><br />
|
||
<span class="medgenPMjournal">Clin Lab</span>
|
||
2023 Sep 1;69(9)
|
||
doi: 10.7754/Clin.Lab.2023.230331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37702673" target="_blank">37702673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33496032">Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mütze U,
|
||
Henze L,
|
||
Gleich F,
|
||
Lindner M,
|
||
Grünert SC,
|
||
Spiekerkoetter U,
|
||
Santer R,
|
||
Blessing H,
|
||
Thimm E,
|
||
Ensenauer R,
|
||
Weigel J,
|
||
Beblo S,
|
||
Arélin M,
|
||
Hennermann JB,
|
||
Marquardt T,
|
||
Marquardt I,
|
||
Freisinger P,
|
||
Krämer J,
|
||
Dieckmann A,
|
||
Weinhold N,
|
||
Keller M,
|
||
Walter M,
|
||
Schiergens KA,
|
||
Maier EM,
|
||
Hoffmann GF,
|
||
Garbade SF,
|
||
Kölker S</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jul;44(4):857-870.
|
||
Epub 2021 Feb 7
|
||
doi: 10.1002/jimd.12364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33496032" target="_blank">33496032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32505769">Newborn screening for isovaleric acidemia in Quanzhou, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
|
||
Chen D,
|
||
Peng W,
|
||
Wang K,
|
||
Lin W,
|
||
Zhuang J,
|
||
Zheng Z,
|
||
Li M,
|
||
Fu Q</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2020 Oct;509:25-29.
|
||
Epub 2020 Jun 4
|
||
doi: 10.1016/j.cca.2020.06.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32505769" target="_blank">32505769</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/23063737">Identification of a novel IVD mutation in a consanguineous family with isovaleric acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Kaya N,
|
||
Colak D,
|
||
Al-Bakheet A,
|
||
Al-Younes B,
|
||
Tulbah S,
|
||
Daghestani M,
|
||
Al-Mutairi F,
|
||
Al-Amoudi M,
|
||
Al-Odaib A,
|
||
Al-Aqeel AI</span><br />
|
||
<span class="medgenPMjournal">Gene</span>
|
||
2013 Jan 25;513(2):297-300.
|
||
Epub 2012 Oct 9
|
||
doi: 10.1016/j.gene.2012.09.097.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23063737" target="_blank">23063737</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/21040472">Molecular defect of isovaleryl-CoA dehydrogenase in the skunk mutant of silkworm, Bombyx mori.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Urano K,
|
||
Daimon T,
|
||
Banno Y,
|
||
Mita K,
|
||
Terada T,
|
||
Shimizu K,
|
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Katsuma S,
|
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Shimada T</span><br />
|
||
<span class="medgenPMjournal">FEBS J</span>
|
||
2010 Nov;277(21):4452-63.
|
||
Epub 2010 Oct 1
|
||
doi: 10.1111/j.1742-4658.2010.07832.x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21040472" target="_blank">21040472</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isovaleryl-CoA%20dehydrogenase%20deficiency%22%20AND%20Prognosis%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 (13)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/37702673">A Case Report of a Novel Isovaleryl-CoA Dehydrogenase Gene Mutation in a Chinese Family with Isovaleric Acidemia.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Chen W,
|
||
Miao C,
|
||
Li Y,
|
||
Wang X,
|
||
Wu W,
|
||
Long Q,
|
||
Jiang Y,
|
||
Yan Z,
|
||
Cui Y</span><br />
|
||
<span class="medgenPMjournal">Clin Lab</span>
|
||
2023 Sep 1;69(9)
|
||
doi: 10.7754/Clin.Lab.2023.230331.
|
||
<span class="bold">PMID: </span><a href="/pubmed/37702673" target="_blank">37702673</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/33496032">Newborn screening and disease variants predict neurological outcome in isovaleric aciduria.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Mütze U,
|
||
Henze L,
|
||
Gleich F,
|
||
Lindner M,
|
||
Grünert SC,
|
||
Spiekerkoetter U,
|
||
Santer R,
|
||
Blessing H,
|
||
Thimm E,
|
||
Ensenauer R,
|
||
Weigel J,
|
||
Beblo S,
|
||
Arélin M,
|
||
Hennermann JB,
|
||
Marquardt T,
|
||
Marquardt I,
|
||
Freisinger P,
|
||
Krämer J,
|
||
Dieckmann A,
|
||
Weinhold N,
|
||
Keller M,
|
||
Walter M,
|
||
Schiergens KA,
|
||
Maier EM,
|
||
Hoffmann GF,
|
||
Garbade SF,
|
||
Kölker S</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2021 Jul;44(4):857-870.
|
||
Epub 2021 Feb 7
|
||
doi: 10.1002/jimd.12364.
|
||
<span class="bold">PMID: </span><a href="/pubmed/33496032" target="_blank">33496032</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/32505769">Newborn screening for isovaleric acidemia in Quanzhou, China.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Lin Y,
|
||
Chen D,
|
||
Peng W,
|
||
Wang K,
|
||
Lin W,
|
||
Zhuang J,
|
||
Zheng Z,
|
||
Li M,
|
||
Fu Q</span><br />
|
||
<span class="medgenPMjournal">Clin Chim Acta</span>
|
||
2020 Oct;509:25-29.
|
||
Epub 2020 Jun 4
|
||
doi: 10.1016/j.cca.2020.06.010.
|
||
<span class="bold">PMID: </span><a href="/pubmed/32505769" target="_blank">32505769</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/31241292">Epidemiology of rare diseases detected by newborn screening in the Czech Republic.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">David J,
|
||
Chrastina P,
|
||
Pešková K,
|
||
Kožich V,
|
||
Friedecký D,
|
||
Adam T,
|
||
Hlídková E,
|
||
Vinohradská H,
|
||
Novotná D,
|
||
Hedelová M,
|
||
Al Taji E,
|
||
Holubová A,
|
||
Skalická V,
|
||
Macek M,
|
||
Gaillyová R,
|
||
Votava F</span><br />
|
||
<span class="medgenPMjournal">Cent Eur J Public Health</span>
|
||
2019 Jun;27(2):153-159.
|
||
doi: 10.21101/cejph.a5441.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31241292" target="_blank">31241292</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/26428892">Elevation of pivaloylcarnitine by sivelestat sodium in two children.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Yamada K,
|
||
Kobayashi H,
|
||
Bo R,
|
||
Takahashi T,
|
||
Hasegawa Y,
|
||
Nakamura M,
|
||
Ishige N,
|
||
Yamaguchi S</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2015 Nov;116(3):192-4.
|
||
Epub 2015 Sep 26
|
||
doi: 10.1016/j.ymgme.2015.09.009.
|
||
<span class="bold">PMID: </span><a href="/pubmed/26428892" target="_blank">26428892</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isovaleryl-CoA%20dehydrogenase%20deficiency%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 (18)</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_104">
|
||
<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>
|
||
<div class="portlet_content ln">
|
||
<div class="nl"><a target="_blank" href="/pubmed/25022222">Systematic review and meta-analysis to estimate the birth prevalence of five inherited metabolic diseases.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Moorthie S,
|
||
Cameron L,
|
||
Sagoo GS,
|
||
Bonham JR,
|
||
Burton H</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2014 Nov;37(6):889-98.
|
||
Epub 2014 Jul 15
|
||
doi: 10.1007/s10545-014-9729-0.
|
||
<span class="bold">PMID: </span><a href="/pubmed/25022222" target="_blank">25022222</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Isovaleryl-CoA%20dehydrogenase%20deficiency%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 (1)</a></div></div>
|
||
</div>
|
||
</div></div></div></div></div></div></div>
|
||
<div id="messagearea_bottom">
|
||
|
||
</div>
|
||
<div class=" bottom">
|
||
|
||
</div>
|
||
|
||
</div>
|
||
</div>
|
||
<div class="supplemental col three_col last">
|
||
<h2 class="offscreen_noflow">Supplemental Content</h2>
|
||
|
||
<div>
|
||
|
||
<!-- MedGen supplemental column starts here -->
|
||
<div class="rightCol mgCol">
|
||
<div class="portlet mgSection" id="ID_113">
|
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<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Table_of_contents">Table of contents</h1><a sid="113" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
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<div class="portlet_content ln"><ul id="my-toc"></ul></div>
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</div>
|
||
|
||
<div class="portlet mgSection" id="ID_106">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Genetic_Testing_Registry">Genetic Testing Registry</h1><a sid="106" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="/gtr/tests?term=C0268575%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268575%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (40)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268575%5bDISCUI%5d&filter=method%3A1%5F2" target="_blank">Enzyme assay (5)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268575%5bDISCUI%5d&filter=method%3A2%5F18" target="_blank">Mutation scanning of select exons (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268575%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268575%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (16)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268575%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (66)</a></li>
|
||
<li><a href="/gtr/tests?term=C0268575%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (24)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268575%5bDISCUI%5d" target="_blank">See all (81)</a></total></li>
|
||
</ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_119">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Clinical_resources">Clinical resources</h1><a sid="119" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="https://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=243500" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=33" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Isovaleryl-CoA%20dehydrogenase%20deficiency" target="_blank">ClinicalTrials.gov</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_121">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Practice_guidelines">Practice guidelines</h1><a sid="121" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22isovaleryl-coa%20dehydrogenase%20deficiency%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">PubMed</a><div class="help-popup">See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the <a href="/medgen/docs/faq/" title="Frequently asked questions" target="_blank">FAQ</a> for details.</div></li></ul><h3 class="subhead">Curated</h3><ul class="a_poppers"><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/C5.pdf">ACMG ACT, 2022</a><div>American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5 Acylcarnitine, Isovaleric Acidemia, 2022</div></li><li><a target="_blank" href="https://www.acmg.net/PDFLibrary/C5-Algorithm.pdf">ACMG Algorithm, 2022</a><div>American College of Medical Genetics and Genomics, Algorithm, Isovaleric Acidemia: Increased C5 (isolated), 2022</div></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_115">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Molecular_resources">Molecular resources</h1><a sid="115" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.omim.org/search?index=entry&start=1&limit=10&sort=score%20desc&field=number&search=607036" target="_blank">OMIM</a></li><li><a href="/clinvar/?term=3712[geneid]" target="_blank">View IVD variations in ClinVar</a></li><li><a href="/nuccore/229577164" target="_blank">RefSeqGene</a></li><li><a href="https://catalog.coriell.org/Search?q=243500" target="_blank">Coriell Institute for Medical Research</a></li></ul></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_116">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Consumer_resources">Consumer resources</h1><a sid="116" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><ul><li><a href="http://www.diseaseinfosearch.org/Isovaleric+Acidemia/3888" target="_blank">Genetic Alliance</a></li><li><a href="https://www.malacards.org/card/isovaleric_acidemia" target="_blank">MalaCards</a></li><li><a href="https://vsearch.nlm.nih.gov/vivisimo/cgi-bin/query-meta?v:project=medlineplus&query=Isovaleryl-CoA%20dehydrogenase%20deficiency" target="_blank">MedlinePlus</a></li><li><a href="https://medlineplus.gov/genetics/condition/isovaleric-acidemia" target="_blank">MedlinePlusGenetics (GHR)</a></li><li><a href="https://rarediseases.info.nih.gov/diseases/465/disease" target="_blank">NCATS Office of Rare Diseases Research (GARD)</a></li></ul></div>
|
||
</div>
|
||
</div>
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Reviews</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="Reviews" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenReviews.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content">
|
||
<ul>
|
||
<li>
|
||
<a href="/pubmed/38484105" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=1&linkpostotal=3" target="_blank"><span class="gene_reviews">GeneReviews</span></a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed/clinical?term=Isovaleryl-CoA%20dehydrogenase%20deficiency" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=2&linkpostotal=3" target="_blank">PubMed Clinical Queries</a>
|
||
</li>
|
||
<li>
|
||
<a href="/pubmed?term=Isovaleryl-CoA%20dehydrogenase%20deficiency%20AND%20humans[mesh]%20AND%20review[publication%20type]" ref="ncbi_uid=&discoId=gtr_reviews&linkpos=3&linkpostotal=3" target="_blank">Reviews in PubMed</a>
|
||
</li>
|
||
</ul>
|
||
</div>
|
||
</div>
|
||
|
||
<!-- MedGen supplemental column ends here -->
|
||
<div class="portlet brieflink">
|
||
<div class="portlet_head">
|
||
<div class="portlet_title">
|
||
<h3>Related information</h3>
|
||
</div>
|
||
<a name="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter" sid="1" href="#" class="portlet_shutter" title="Show/hide content" remembercollapsed="true" pgsec_name="discovery_db_links" id="EntrezSystem2.PEntrez.MedGen.MedGen_ResultsPanel.MedGen_SingleItemSuplCluster.MedGenDiscoveryDbLinks.Shutter"></a>
|
||
</div>
|
||
<div class="portlet_content DiscoveryDbLinks">
|
||
<ul>
|
||
<li class="brieflinkpopper">
|
||
<a class="brieflinkpopperctrl" href="/clinvar?LinkName=medgen_clinvar&from_uid=82822" ref="log$=recordlinks">ClinVar</a>
|
||
<div class="brieflinkpop offscreen_noflow">Related medical variations</div>
|
||
</li>
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<p><a href="https://www.nlm.nih.gov/web_policies.html" class="text-white">Web Policies</a><br />
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