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<meta name="keywords" content="2-@methylbutyryl-coa dehydrogenase deficiency, 2-mbcd deficiency, 2-methylbutyric aciduria, 2-methylbutyryl glycinuria, 2-methylbutyryl-coa dehydrogenase deficiency, 2-methylbutyryl-coenzyme a dehydrogenase deficiency, 2-methylbutyryl-coenzyme a dehydrogenase deficiency disease, 2-methylbutyrylglycinuria, C1864912, acadsb, acadsb-gene related deficiency of 2-methylbutyryl-coenzyme a dehydrogenase, acyl-coa dehydrogenase, short/branched chain deficiency, butyryl-coa dehydrogenase deficiency, deficiency of 2-methylbutyryl-coa dehydrogenase, deficiency of 2-methylbutyryl-coenzyme a dehydrogenase, developmental delay due to 2-methylbutyryl-coa dehydrogenase deficiency, disease or syndrome, sbcad deficiency, sbcadd, short branched-chain acyl-coa dehydrogenase deficiency, short-branched-chain acyl-coa dehydrogenase deficiency, short/branched-chain acyl-coa dehydrogenase deficiency, short/branched-chain acyl-coa dehydrogenase deficiency disease, 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="2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and neurologic signs. Therefore, the clinical relevance of the deficiency is unclear (Sass et al., 2008)." /><meta name="robots" content="index,nofollow,noarchive" />
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<!--
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||
UID=355324
|
||
ConceptID=C1864912
|
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-->
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<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">Deficiency of 2-methylbutyryl-CoA dehydrogenase<span class="h1sub">(ACADSB)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>355324</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."><span class="highlight" style="background-color:">C1864912</span></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>2-methylbutyric aciduria; 2-methylbutyryl-CoA dehydrogenase deficiency; 2-methylbutyrylglycinuria; ACADSB; Acyl-CoA Dehydrogenase, Short/Branched Chain Deficiency; SBCAD deficiency; Short branched-chain acyl-CoA dehydrogenase deficiency</td></tr>
|
||
<tr><td><span class="bold">SNOMED CT: </span></td>
|
||
<td>Deficiency of 2-methylbutyryl-CoA dehydrogenase (444838008); Deficiency of 2-methylbutyryl-coenzyme A dehydrogenase (444838008); 2-methylbutyryl-coenzyme A dehydrogenase deficiency disease (1306751004); 2-methylbutyric aciduria (1306751004); Short/branched-chain acyl-coA dehydrogenase deficiency disease (1306751004); ACADSB-gene related deficiency of 2-methylbutyryl-coenzyme A dehydrogenase (1306751004)</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="ACADSB - ID: 36 - NCBI Gene" href="/gene/36" class="medgenPMinfo">ACADSB</a> (10q26.13)</td></tr>
|
||
<tr><td colspan="2" class="small"> </td></tr><tr><td>HPO:</td>
|
||
<td><a target="_blank" title="Human Phenotype Ontology" href="https://hpo.jax.org/app/browse/term/HP:0020147">HP:0020147</a></td></tr>
|
||
<tr><td>Monarch Initiative:</td>
|
||
<td><a href="https://monarchinitiative.org/disease/MONDO:0012392" target="_blank">MONDO:0012392</a></td></tr>
|
||
<tr><td>OMIM<span class="superscript">®</span>:</td>
|
||
<td><a href="https://omim.org/entry/610006" target="_blank">610006</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=79157">ORPHA79157</a></td></tr></tbody></table></div><div class="rprt-body jig-ncbiinpagenav" data-jigconfig="smoothScroll: false, gotoTopLink: true, gotoTopLinkText: '', gotoTopLinkAttrs: {'title': 'Go to the top of the page'},allHeadingLevels: ['h1'], topOfPageTOC: true, tocId: 'my-toc'"><div id="rprt-tabs-1" class="rprt-tab"><div id="tb-termsProp-1"><div class="leftCol mgCol"><div>
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<div class="portlet mgSection" id="ID_100">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Definition">Definition</h1><a sid="100" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln">2-Methylbutyryl-CoA dehydrogenase deficiency is an autosomal recessive metabolic disorder of impaired isoleucine degradation. It is most often ascertained via newborn screening and is usually clinically asymptomatic, although some patients have been reported to have delayed development and neurologic signs. Therefore, the clinical relevance of the deficiency is unclear (Sass et al., 2008). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
|
||
</div>
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||
|
||
<div class="portlet mgSection" id="ID_117">
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||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Additional_description">Additional description</h1><a sid="117" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln"><div class="mgSection"><strong>From MedlinePlus Genetics</strong><br />Short/branched chain acyl-CoA dehydrogenase (SBCAD) deficiency (also known as 2-methylbutyryl-CoA dehydrogenase deficiency) is a rare disorder in which the body is unable to process proteins properly. Normally, the body breaks down proteins from food into smaller parts called amino acids. Amino acids can be further processed to provide energy for the body. People with SBCAD deficiency cannot process a particular amino acid called isoleucine.<br /><br />Most cases of SBCAD deficiency are detected shortly after birth by newborn screening, which identifies abnormal levels of certain compounds in the blood. In individuals with this condition, a compound called 2-methylbutyryl carnitine is elevated in the blood and another called 2-methylbutyrylglycine is elevated in the urine (2-methylbutyrylglycinuria).<br /><br />Most people with SBCAD deficiency have no health problems related to the disorder. A small percentage of affected individuals develop signs and symptoms of the condition, which can begin soon after birth or later in childhood. The initial symptoms often include poor feeding, lack of energy (lethargy), vomiting, and irritability. These symptoms sometimes progress to serious health problems such as difficulty breathing, seizures, and coma. Additional problems can include poor growth, vision impairment, learning disabilities, muscle weakness, and delays in motor skills such as standing and walking.<br /><br />It is unclear why some people with SBCAD deficiency develop health problems and others do not. Doctors suggest that in some cases, signs and symptoms may be triggered by infections, prolonged periods without food (fasting), or an increased amount of protein-rich foods in the diet. <a target="_blank" href="https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency">https://medlineplus.gov/genetics/condition/short-branched-chain-acyl-coa-dehydrogenase-deficiency</a></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_102">
|
||
<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>
|
||
<div class="portlet_content ln clinfeat"><strong>From HPO</strong><br />
|
||
<div class="divPopper rprt" id="clin_1780879"><div><strong>2-ethylhydracylic aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1780879</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.">C5539431</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">An increased concentration of 2-ethylhydracylic acid in the urine.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1780879">Feature record</a> | <a href="/medgen?term=%222-ethylhydracylic%20aciduria%22%5BClinical%20Features%5D%20OR%201780879%5Buid%5D">Search on this feature</a></div></div>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<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>
|
||
<div class="divPopper rprt" id="clin_381392"><div><strong>Motor delay</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>381392</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.">C1854301</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A type of Developmental delay characterized by a delay in acquiring motor skills.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/381392">Feature record</a> | <a href="/medgen?term=%22Motor%20delay%22%5BClinical%20Features%5D%20OR%20381392%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_10133"><div><strong>Hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>10133</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.">C0026827</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/10133">Feature record</a> | <a href="/medgen?term=%22Hypotonia%22%5BClinical%20Features%5D%20OR%2010133%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_234650"><div><strong>Generalized amyotrophy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>234650</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.">C1389113</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Generalized (diffuse, unlocalized) amyotrophy (muscle atrophy) affecting multiple muscles.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/234650">Feature record</a> | <a href="/medgen?term=%22Generalized%20amyotrophy%22%5BClinical%20Features%5D%20OR%20234650%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_1644158"><div><strong>Microcephaly</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1644158</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.">C4551563</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Head circumference below 2 standard deviations below the mean for age and gender.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/1644158">Feature record</a> | <a href="/medgen?term=%22Microcephaly%22%5BClinical%20Features%5D%20OR%201644158%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_814310"><div><strong>Apneic episodes in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>814310</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.">C3807980</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Recurrent episodes of apnea occurring during infancy.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/814310">Feature record</a> | <a href="/medgen?term=%22Apneic%20episodes%20in%20infancy%22%5BClinical%20Features%5D%20OR%20814310%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_6979"><div><strong>Hypoglycemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>6979</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.">C0020615</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A decreased concentration of glucose in the blood.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/6979">Feature record</a> | <a href="/medgen?term=%22Hypoglycemia%22%5BClinical%20Features%5D%20OR%206979%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_5720"><div><strong>Hypothermia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>5720</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.">C0020672</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
|
||
<div class="spaceAbove">Reduced body temperature due to failed thermoregulation.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/5720">Feature record</a> | <a href="/medgen?term=%22Hypothermia%22%5BClinical%20Features%5D%20OR%205720%5Buid%5D">Search on this feature</a></div></div>
|
||
<div class="divPopper rprt" id="clin_4613"><div><strong>Exotropia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>4613</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.">C0015310</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
|
||
<div class="spaceAbove">A form of strabismus with one or both eyes deviated outward.</div>
|
||
<div class="spaceAbove nowrap">See: <a href="/medgen/4613">Feature record</a> | <a href="/medgen?term=%22Exotropia%22%5BClinical%20Features%5D%20OR%204613%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 metabolism/homeostasis</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_6979" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypoglycemia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_5720" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypothermia</a></span></li></ul></li><li><span class="TLline">Abnormality of the eye</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_4613" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Exotropia</a></span></li></ul></li><li><span class="TLline">Abnormality of the genitourinary system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1780879" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">2-ethylhydracylic aciduria</a></span></li></ul></li><li><span class="TLline">Abnormality of the musculoskeletal system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_234650" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized amyotrophy</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_10133" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hypotonia</a></span></li><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1644158" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Microcephaly</a></span></li></ul></li><li><span class="TLline">Abnormality of the nervous system</span><ul><li class="TLline">
|
||
<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">
|
||
<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">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_381392" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Motor delay</a></span></li><li class="TLline">
|
||
<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">Abnormality of the respiratory system</span><ul><li class="TLline">
|
||
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_814310" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apneic episodes in infancy</a></span></li></ul></li></ul></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_118">
|
||
<div class="portlet_head mgSectionHead ui-widget-header"><h1 class="nl" id="Term_Hierarchy">Term Hierarchy</h1><a sid="118" href="#" class="portlet_shutter" title="Show/hide content"></a></div>
|
||
<div class="portlet_content ln HierarchyGTR"><div class="jig-ncbitabs"><ul><li><a href="#tabGTR">GTR</a></li><li><a href="#tabMGEN">MeSH</a></li><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="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1864912[DISCUI]&test_type=Clinical" ref="ncbi_uid=355324">C</a></span><span class="chiclet unavailable round" title="Research Tests">R</span><span class="chiclet Ocolor" title="OMIM"><a ref="ncbi_uid=355324" target="_blank" href="/omim/600301">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=355324" ref="ncbi_uid=355324">V</a></span></span><span class="TLline">Deficiency of 2-methylbutyryl-CoA dehydrogenase</span></li></ul></div></div></div></div></div><div id="tabMGEN"><div class="ds_tree"><ul><li><span class="TLline"><a href="/medgen/1842207" ref="tree=MeSH" title="MedGen record for Amino acid or protein metabolism disease with epilepsy">Amino acid or protein metabolism disease with epilepsy</a></span><ul><li><span class="matched_ds">Deficiency of 2-methylbutyryl-CoA dehydrogenase</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=11183&search=Disease_Classif_Simple&new=1" class="ital bold">this link</a> to review classifications for <span class="ital">Deficiency of 2-methylbutyryl-CoA dehydrogenase</span> in Orphanet.</div></div></div>
|
||
</div>
|
||
|
||
<div class="portlet mgSection" id="ID_105">
|
||
<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>
|
||
<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>
|
||
<div class="nl"><a target="_blank" href="/pubmed/12837870">Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matern D,
|
||
He M,
|
||
Berry SA,
|
||
Rinaldo P,
|
||
Whitley CB,
|
||
Madsen PP,
|
||
van Calcar SC,
|
||
Lussky RC,
|
||
Andresen BS,
|
||
Wolff JA,
|
||
Vockley J</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2003 Jul;112(1 Pt 1):74-8.
|
||
doi: 10.1542/peds.112.1.74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12837870" target="_blank">12837870</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22deficiency%20of%202-methylbutyryl-coa%20dehydrogenase%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/21290185">Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Knerr I,
|
||
Weinhold N,
|
||
Vockley J,
|
||
Gibson KM</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
2012 Jan;35(1):29-40.
|
||
Epub 2011 Feb 3
|
||
doi: 10.1007/s10545-010-9269-1.
|
||
<span class="bold">PMID: </span><a href="/pubmed/21290185" target="_blank">21290185</a><a href="/pmc/articles/PMC4136412" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17393751">2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Calcar SC,
|
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Gleason LA,
|
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Lindh H,
|
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Hoffman G,
|
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Rhead W,
|
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Vockley G,
|
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Durkin MS</span><br />
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2007 Feb;106(1):12-5.
|
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<span class="bold">PMID: </span><a href="/pubmed/17393751" target="_blank">17393751</a></div>
|
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<div class="nl"><a target="_blank" href="/pubmed/12837870">Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matern D,
|
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He M,
|
||
Berry SA,
|
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Rinaldo P,
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Whitley CB,
|
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Madsen PP,
|
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van Calcar SC,
|
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Lussky RC,
|
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Andresen BS,
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Wolff JA,
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|
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<span class="bold">PMID: </span><a href="/pubmed/12837870" target="_blank">12837870</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/10832746">2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gibson KM,
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Burlingame TG,
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Hogema B,
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Jakobs C,
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Schutgens RB,
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Millington D,
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Roe CR,
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Roe DS,
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Sweetman L,
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Steiner RD,
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Pohowalla P,
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Sacks M,
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<span class="bold">PMID: </span><a href="/pubmed/10832746" target="_blank">10832746</a></div>
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<div class="nl"><a target="_blank" href="/pubmed/3930843">Riboflavin-responsive defects of beta-oxidation.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Gregersen N</span><br />
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<span class="bold">PMID: </span><a href="/pubmed/3930843" target="_blank">3930843</a></div>
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<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%202-methylbutyryl-CoA%20dehydrogenase%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 (11)</a></div><h3 class="subhead">Diagnosis</h3>
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<div class="nl"><a target="_blank" href="/pubmed/21290185">Advances and challenges in the treatment of branched-chain amino/keto acid metabolic defects.</a></div>
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<div class="portlet_content ln"><span class="medgenPMauthor">Knerr I,
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Weinhold N,
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|
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|
||
<div class="nl"><a target="_blank" href="/pubmed/17945527">2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sass JO,
|
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Ensenauer R,
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Röschinger W,
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Reich H,
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Steuerwald U,
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Schirrmacher O,
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Engel K,
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Häberle J,
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Andresen BS,
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Mégarbané A,
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Lehnert W,
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Zschocke J</span><br />
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2008 Jan;93(1):30-5.
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Epub 2007 Oct 22
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doi: 10.1016/j.ymgme.2007.09.002.
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<span class="bold">PMID: </span><a href="/pubmed/17945527" target="_blank">17945527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17393751">2-methylbutyryl-CoA dehydrogenase deficiency in Hmong infants identified by expanded newborn screen.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">van Calcar SC,
|
||
Gleason LA,
|
||
Lindh H,
|
||
Hoffman G,
|
||
Rhead W,
|
||
Vockley G,
|
||
Wolff JA,
|
||
Durkin MS</span><br />
|
||
<span class="medgenPMjournal">WMJ</span>
|
||
2007 Feb;106(1):12-5.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17393751" target="_blank">17393751</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12837870">Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matern D,
|
||
He M,
|
||
Berry SA,
|
||
Rinaldo P,
|
||
Whitley CB,
|
||
Madsen PP,
|
||
van Calcar SC,
|
||
Lussky RC,
|
||
Andresen BS,
|
||
Wolff JA,
|
||
Vockley J</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2003 Jul;112(1 Pt 1):74-8.
|
||
doi: 10.1542/peds.112.1.74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12837870" target="_blank">12837870</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/10832746">2-Methylbutyryl-coenzyme A dehydrogenase deficiency: a new inborn error of L-isoleucine metabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gibson KM,
|
||
Burlingame TG,
|
||
Hogema B,
|
||
Jakobs C,
|
||
Schutgens RB,
|
||
Millington D,
|
||
Roe CR,
|
||
Roe DS,
|
||
Sweetman L,
|
||
Steiner RD,
|
||
Linck L,
|
||
Pohowalla P,
|
||
Sacks M,
|
||
Kiss D,
|
||
Rinaldo P,
|
||
Vockley J</span><br />
|
||
<span class="medgenPMjournal">Pediatr Res</span>
|
||
2000 Jun;47(6):830-3.
|
||
doi: 10.1203/00006450-200006000-00025.
|
||
<span class="bold">PMID: </span><a href="/pubmed/10832746" target="_blank">10832746</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%202-methylbutyryl-CoA%20dehydrogenase%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 (14)</a></div><h3 class="subhead">Therapy</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/23712021">Prevalence and mutation analysis of short/branched chain acyl-CoA dehydrogenase deficiency (SBCADD) detected on newborn screening in Wisconsin.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Van Calcar SC,
|
||
Baker MW,
|
||
Williams P,
|
||
Jones SA,
|
||
Xiong B,
|
||
Thao MC,
|
||
Lee S,
|
||
Yang MK,
|
||
Rice GM,
|
||
Rhead W,
|
||
Vockley J,
|
||
Hoffman G,
|
||
Durkin MS</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2013 Sep-Oct;110(1-2):111-5.
|
||
Epub 2013 Apr 15
|
||
doi: 10.1016/j.ymgme.2013.03.021.
|
||
<span class="bold">PMID: </span><a href="/pubmed/23712021" target="_blank">23712021</a><a href="/pmc/articles/PMC5006389" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/17945527">2-Methylbutyryl-coenzyme A dehydrogenase deficiency: functional and molecular studies on a defect in isoleucine catabolism.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Sass JO,
|
||
Ensenauer R,
|
||
Röschinger W,
|
||
Reich H,
|
||
Steuerwald U,
|
||
Schirrmacher O,
|
||
Engel K,
|
||
Häberle J,
|
||
Andresen BS,
|
||
Mégarbané A,
|
||
Lehnert W,
|
||
Zschocke J</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2008 Jan;93(1):30-5.
|
||
Epub 2007 Oct 22
|
||
doi: 10.1016/j.ymgme.2007.09.002.
|
||
<span class="bold">PMID: </span><a href="/pubmed/17945527" target="_blank">17945527</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12837870">Prospective diagnosis of 2-methylbutyryl-CoA dehydrogenase deficiency in the Hmong population by newborn screening using tandem mass spectrometry.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Matern D,
|
||
He M,
|
||
Berry SA,
|
||
Rinaldo P,
|
||
Whitley CB,
|
||
Madsen PP,
|
||
van Calcar SC,
|
||
Lussky RC,
|
||
Andresen BS,
|
||
Wolff JA,
|
||
Vockley J</span><br />
|
||
<span class="medgenPMjournal">Pediatrics</span>
|
||
2003 Jul;112(1 Pt 1):74-8.
|
||
doi: 10.1542/peds.112.1.74.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12837870" target="_blank">12837870</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/3930843">Riboflavin-responsive defects of beta-oxidation.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Gregersen N</span><br />
|
||
<span class="medgenPMjournal">J Inherit Metab Dis</span>
|
||
1985;8 Suppl 1:65-9.
|
||
doi: 10.1007/BF01800662.
|
||
<span class="bold">PMID: </span><a href="/pubmed/3930843" target="_blank">3930843</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%202-methylbutyryl-CoA%20dehydrogenase%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 (4)</a></div><h3 class="subhead">Prognosis</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/30730842">Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Porta F,
|
||
Chiesa N,
|
||
Martinelli D,
|
||
Spada M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2019 Feb 25;32(2):101-108.
|
||
doi: 10.1515/jpem-2018-0311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30730842" target="_blank">30730842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12359132">Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen TV,
|
||
Andresen BS,
|
||
Corydon TJ,
|
||
Ghisla S,
|
||
Abd-El Razik N,
|
||
Mohsen AW,
|
||
Cederbaum SD,
|
||
Roe DS,
|
||
Roe CR,
|
||
Lench NJ,
|
||
Vockley J</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2002 Sep-Oct;77(1-2):68-79.
|
||
doi: 10.1016/s1096-7192(02)00152-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12359132" target="_blank">12359132</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%202-methylbutyryl-CoA%20dehydrogenase%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 (2)</a></div><h3 class="subhead">Clinical prediction guides</h3>
|
||
<div class="nl"><a target="_blank" href="/pubmed/31133529">Metabolic analysis reveals evidence for branched chain amino acid catabolism crosstalk and the potential for improved treatment of organic acidurias.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">McCalley S,
|
||
Pirman D,
|
||
Clasquin M,
|
||
Johnson K,
|
||
Jin S,
|
||
Vockley J</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2019 Sep-Oct;128(1-2):57-61.
|
||
Epub 2019 May 21
|
||
doi: 10.1016/j.ymgme.2019.05.008.
|
||
<span class="bold">PMID: </span><a href="/pubmed/31133529" target="_blank">31133529</a><a href="/pmc/articles/PMC6864255" target="_blank" class="PubMedFree">Free PMC Article</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/30730842">Clinical, biochemical, and molecular spectrum of short/branched-chain acyl-CoA dehydrogenase deficiency: two new cases and review of literature.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Porta F,
|
||
Chiesa N,
|
||
Martinelli D,
|
||
Spada M</span><br />
|
||
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
|
||
2019 Feb 25;32(2):101-108.
|
||
doi: 10.1515/jpem-2018-0311.
|
||
<span class="bold">PMID: </span><a href="/pubmed/30730842" target="_blank">30730842</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12359132">Identification of isobutyryl-CoA dehydrogenase and its deficiency in humans.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Nguyen TV,
|
||
Andresen BS,
|
||
Corydon TJ,
|
||
Ghisla S,
|
||
Abd-El Razik N,
|
||
Mohsen AW,
|
||
Cederbaum SD,
|
||
Roe DS,
|
||
Roe CR,
|
||
Lench NJ,
|
||
Vockley J</span><br />
|
||
<span class="medgenPMjournal">Mol Genet Metab</span>
|
||
2002 Sep-Oct;77(1-2):68-79.
|
||
doi: 10.1016/s1096-7192(02)00152-x.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12359132" target="_blank">12359132</a></div>
|
||
|
||
<div class="nl"><a target="_blank" href="/pubmed/12112118">Clinical variability in 3-hydroxy-2-methylbutyryl-CoA dehydrogenase deficiency.</a></div>
|
||
<div class="portlet_content ln"><span class="medgenPMauthor">Ensenauer R,
|
||
Niederhoff H,
|
||
Ruiter JP,
|
||
Wanders RJ,
|
||
Schwab KO,
|
||
Brandis M,
|
||
Lehnert W</span><br />
|
||
<span class="medgenPMjournal">Ann Neurol</span>
|
||
2002 May;51(5):656-9.
|
||
doi: 10.1002/ana.10169.
|
||
<span class="bold">PMID: </span><a href="/pubmed/12112118" target="_blank">12112118</a></div>
|
||
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%22Deficiency%20of%202-methylbutyryl-CoA%20dehydrogenase%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 (4)</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">
|
||
<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>
|
||
<div class="portlet_content ln"><ul id="my-toc"></ul></div>
|
||
</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=C1864912%5bDISCUI%5d&filter=method%3A1%5F1" target="_blank">Analyte (7)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864912%5bDISCUI%5d&filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (25)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864912%5bDISCUI%5d&filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864912%5bDISCUI%5d&filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (3)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864912%5bDISCUI%5d&filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (33)</a></li>
|
||
<li><a href="/gtr/tests?term=C1864912%5bDISCUI%5d&filter=method%3A2%5F19" target="_blank">Targeted variant analysis (6)</a></li>
|
||
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C1864912%5bDISCUI%5d" target="_blank">See all (47)</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>
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||
<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=610006" target="_blank">OMIM</a></li><li><a href="http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=79157" target="_blank">Orphanet</a></li><li><a href="https://clinicaltrials.gov/search?cond=Deficiency%20of%202-methylbutyryl-CoA%20dehydrogenase" 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>
|
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<div class="portlet_content ln"><ul class="a_poppers"><li><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(%22deficiency%20of%202-methylbutyryl-coa%20dehydrogenase%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>
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