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<meta name="keywords" content="3 alpha methylcrotonylglycinuria 1, 3 methylcrotonyl-coa carboxylase 1 deficiency, 3 methylcrotonyl-coa carboxylase deficiency, 3 methylcrotonylglycinuria, 3-@methylcrotonyl-coa carboxylase 1 deficiency, 3-mcc deficiency, 3-methylcrotonyl coa carboxylase 1 deficiency, 3-methylcrotonyl-coa carboxylase 1 deficiency, 3-methylcrotonyl-coa carboxylase deficiency, 3-methylcrotonyl-coa carboxylase deficiency caused by mutation in mccc1, 3-methylcrotonyl-coenzyme a carboxylase deficiency, 3-methylcrotonylglycinuria, 3-methylcrotonylglycinuria 1, 3-methylcrotonylglycinuria i, C0268600, beta-methylcrotonylglycinuria, type 1, bmcc deficiency, deficiency of methylcrotonoyl-coa carboxylase, disease or syndrome, mcc 1 deficiency, mcc deficiency, mcc1 deficiency, mcc1d, mccc1, mccc1 3-methylcrotonyl-coa carboxylase deficiency, mccc1-related 3-methylcrotonyl-coa carboxylase deficiency, mccd type 1, methylcrotonoyl-coa carboxylase 1 deficiency, methylcrotonyl-coa carboxylase deficiency, methylcrotonylglycinuria type 1, methylcrotonylglycinuria type i, 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="3-Methylcrotonylglycinuria is an autosomal recessive disorder of leucine catabolism. The clinical phenotype is highly variable, ranging from neonatal onset with severe neurologic involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. MCC activity in extracts of cultured fibroblasts of patients is usually less than 2% of control (summary by Baumgartner et al., 2001).&#13; Also see 3-methylcrotonylglycinuria II (MCC2D; 210210), caused by mutation in the beta subunit of 3-methylcrotonyl-CoA carboxylase (MCCC2; 609014)." /><meta name="robots" content="index,nofollow,noarchive" />
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<title>3-methylcrotonyl-CoA carboxylase 1 deficiency (Concept Id: C0268600)
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<!--
UID=78691
ConceptID=C0268600
-->
<!--imgCountBooks = 0--><h1 class="medgenTitle"><div class="MedGenTitleText">3-methylcrotonyl-CoA carboxylase 1 deficiency<span class="h1sub">(MCC1D)</span></div></h1><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>78691</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)&#10;Click for more information.">C0268600</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>3 Alpha methylcrotonylglycinuria 1; MCC 1 deficiency; MCC1D; MCCC1-Related 3-Methylcrotonyl-CoA Carboxylase Deficiency; MCCD TYPE 1; METHYLCROTONYLGLYCINURIA TYPE I</td></tr>
<tr><td><span class="bold">SNOMED CT: </span></td>
<td>beta-Methylcrotonylglycinuria, type 1 (13144005)</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="MCCC1 - ID: 56922 - NCBI Gene" href="/gene/56922" class="medgenPMinfo">MCCC1</a> (3q27.1)</td></tr>
<tr><td colspan="2" class="small"> </td></tr><tr><td>Monarch Initiative:</td>
<td><a href="https://monarchinitiative.org/disease/MONDO:0008861" target="_blank">MONDO:0008861</a></td></tr>
<tr><td>OMIM<span class="superscript">®</span>:</td>
<td><a href="https://omim.org/entry/210200" target="_blank">210200</a></td></tr>
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<div class="portlet mgSection" id="ID_100">
<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">3-Methylcrotonylglycinuria is an autosomal recessive disorder of leucine catabolism. The clinical phenotype is highly variable, ranging from neonatal onset with severe neurologic involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency. MCC activity in extracts of cultured fibroblasts of patients is usually less than 2% of control (summary by Baumgartner et al., 2001).&#13; Also see 3-methylcrotonylglycinuria II (MCC2D; 210210), caused by mutation in the beta subunit of 3-methylcrotonyl-CoA carboxylase (MCCC2; 609014). [from <a title="Online Mendelian Inheritance in Man" href="http://www.omim.org" class="defSource" target="_blank">OMIM</a>]</div>
</div>
<div class="portlet mgSection" id="ID_117">
<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 />3-methylcrotonyl-CoA carboxylase deficiency (also called MCC deficiency) is an inherited disorder in which the body is unable to process certain proteins. People with this disorder have a shortage of an enzyme that helps break down proteins that contain a particular building block (amino acid) called leucine.<br /><br />The signs and symptoms of MCC deficiency can vary among individuals, even among individuals in the same family. Some people with the genetic changes that cause MCC deficiency will not develop symptoms until adulthood, while many will never develop signs or symptoms.<br /><br /><br /><br />Some affected individuals develop signs and symptoms in infancy or early childhood after an event such as an infection, a long period without food, or the introduction of a high-protein diet. Features of MCC deficiency may include feeding difficulties, delayed development, vomiting, excessive tiredness (lethargy), and weak muscle tone (hypotonia). If untreated, MCC deficiency can lead to seizures; breathing difficulties; and comas, which can be life-threatening.   <a target="_blank" href="https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-deficiency">https://medlineplus.gov/genetics/condition/3-methylcrotonyl-coa-carboxylase-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_56402"><div><strong>Ketonuria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56402</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)&#10;Click for more information.">C0162275</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">High levels of ketone bodies (acetoacetic acid, beta-hydroxybutyric acid, and acetone) in the urine. Ketone bodies are insignificant in the blood and urine of normal individuals in the postprandial or overnight-fasted state.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/56402">Feature record</a> | <a href="/medgen?term=%22Ketonuria%22%5BClinical%20Features%5D%20OR%2056402%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1746334"><div><strong>3-hydroxyisovaleric aciduria</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1746334</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)&#10;Click for more information.">C5421619</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Concentration of 3-hydroxyisovaleric acid in the urine above the normal range.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1746334">Feature record</a> | <a href="/medgen?term=%223-hydroxyisovaleric%20aciduria%22%5BClinical%20Features%5D%20OR%201746334%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1782488"><div><strong>Elevated urinary 3-methylcrotonylglycine level</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1782488</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)&#10;Click for more information.">C5539708</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An abnormally increased amount of 3-methylcrotonylglycine in the urine.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1782488">Feature record</a> | <a href="/medgen?term=%22Elevated%20urinary%203-methylcrotonylglycine%20level%22%5BClinical%20Features%5D%20OR%201782488%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_746019"><div><strong>Failure to thrive</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>746019</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)&#10;Click for more information.">C2315100</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/746019">Feature record</a> | <a href="/medgen?term=%22Failure%20to%20thrive%22%5BClinical%20Features%5D%20OR%20746019%5Buid%5D">Search on this feature</a></div></div>
<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)&#10;Click for more information.">C0042963</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Forceful ejection of the contents of the stomach through the mouth by means of a series of involuntary spasmic contractions.</div>
<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>
<div class="divPopper rprt" id="clin_436211"><div><strong>Feeding difficulties in infancy</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>436211</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)&#10;Click for more information.">C2674608</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Impaired feeding performance of an infant as manifested by difficulties such as weak and ineffective sucking, brief bursts of sucking, and falling asleep during sucking. There may be difficulties with chewing or maintaining attention.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/436211">Feature record</a> | <a href="/medgen?term=%22Feeding%20difficulties%20in%20infancy%22%5BClinical%20Features%5D%20OR%20436211%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_870572"><div><strong>Acute hepatic steatosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>870572</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)&#10;Click for more information.">C4025020</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<div class="spaceAbove">An acute form of hepatic steatosis.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/870572">Feature record</a> | <a href="/medgen?term=%22Acute%20hepatic%20steatosis%22%5BClinical%20Features%5D%20OR%20870572%5Buid%5D">Search on this feature</a></div></div>
<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)&#10;Click for more information.">C0009421</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Disease or Syndrome</dd></dl></div></div></div>
<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>
<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>
<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)&#10;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)&#10;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_56246"><div><strong>Opisthotonus</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>56246</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)&#10;Click for more information.">C0151818</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove nowrap">See: <a href="/medgen/56246">Feature record</a> | <a href="/medgen?term=%22Opisthotonus%22%5BClinical%20Features%5D%20OR%2056246%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_57738"><div><strong>Hyperreflexia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>57738</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)&#10;Click for more information.">C0151889</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Hyperreflexia is the presence of hyperactive stretch reflexes of the muscles.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/57738">Feature record</a> | <a href="/medgen?term=%22Hyperreflexia%22%5BClinical%20Features%5D%20OR%2057738%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)&#10;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_811461"><div><strong>Intellectual disability</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>811461</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)&#10;Click for more information.">C3714756</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Mental or Behavioral Dysfunction</dd></dl></div></div></div>
<div class="spaceAbove">Intellectual disability, previously referred to as mental retardation, is characterized by subnormal intellectual functioning that occurs during the developmental period. It is defined by an IQ score below 70.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/811461">Feature record</a> | <a href="/medgen?term=%22Intellectual%20disability%22%5BClinical%20Features%5D%20OR%20811461%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)&#10;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_346841"><div><strong>Generalized hypotonia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>346841</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)&#10;Click for more information.">C1858120</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Generalized muscular hypotonia (abnormally low muscle tone).</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/346841">Feature record</a> | <a href="/medgen?term=%22Generalized%20hypotonia%22%5BClinical%20Features%5D%20OR%20346841%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_2009"><div><strong>Apnea</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>2009</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)&#10;Click for more information.">C0003578</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Sign or Symptom</dd></dl></div></div></div>
<div class="spaceAbove">Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/2009">Feature record</a> | <a href="/medgen?term=%22Apnea%22%5BClinical%20Features%5D%20OR%202009%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)&#10;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_347900"><div><strong>Acute hyperammonemia</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>347900</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)&#10;Click for more information.">C1859506</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">An increased concentration of ammonia in the blood with sudden onset.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/347900">Feature record</a> | <a href="/medgen?term=%22Acute%20hyperammonemia%22%5BClinical%20Features%5D%20OR%20347900%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_349179"><div><strong>Episodic metabolic acidosis</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>349179</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)&#10;Click for more information.">C1859516</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Repeated transient episodes of metabolic acidosis, that is, of the buildup of acid or depletion of base due to accumulation of metabolic acids.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/349179">Feature record</a> | <a href="/medgen?term=%22Episodic%20metabolic%20acidosis%22%5BClinical%20Features%5D%20OR%20349179%5Buid%5D">Search on this feature</a></div></div>
<div class="divPopper rprt" id="clin_1853230"><div><strong>Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts</strong><div class="aux"><div class="resc"><dl class="rprtid"><dt>MedGen UID: </dt><dd>1853230</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)&#10;Click for more information.">C5872955</a></dd><dt><span class="dotprefix"> •</span></dt><dd>Finding</dd></dl></div></div></div>
<div class="spaceAbove">Activity of 3-methylcrotonyl-CoA carboxylase (EC 6.4.1.4) below the lower limit of normal in cultured fibroblasts.</div>
<div class="spaceAbove nowrap">See: <a href="/medgen/1853230">Feature record</a> | <a href="/medgen?term=%22Reduced%203-methylcrotonyl%20CoA%20carboxylase%20activity%20in%20cultured%20fibroblasts%22%5BClinical%20Features%5D%20OR%201853230%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(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).TreeLite().openAll(); return false;">Show all</a><a class="small" href="#" onclick="jQuery(&quot;.TreeLite&quot;,&quot;#ID_102&quot;).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_347900" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute hyperammonemia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_349179" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Episodic metabolic acidosis</a></span></li><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_1853230" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Reduced 3-methylcrotonyl CoA carboxylase activity in cultured fibroblasts</a></span></li></ul></li><li><span class="TLline">Abnormality of the digestive system</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_870572" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Acute hepatic steatosis</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_436211" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Feeding difficulties in infancy</a></span></li><li class="TLline">
<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">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1746334" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">3-hydroxyisovaleric aciduria</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_1782488" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Elevated urinary 3-methylcrotonylglycine level</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_56402" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Ketonuria</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_346841" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Generalized hypotonia</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></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_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">
<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_57738" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Hyperreflexia</a></span></li><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_811461" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Intellectual disability</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_56246" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Opisthotonus</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_2009" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Apnea</a></span></li></ul></li><li><span class="TLline">Growth abnormality</span><ul><li class="TLline">
<span class="TLline"><a title="click for more information" class="jig-ncbipopper" href="#clin_746019" data-jigconfig="hasArrow: true, openEvent: 'click', closeEvent: 'mouseout', openAnimation: 'fadeIn', closeAnimation: 'fadeOut', triggerPosition: 'center right', destPosition: 'center left', arrowDirection: 'left'">Failure to thrive</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="TLclosed"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C1263739[DISCUI]&amp;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&amp;ncbi_uid=468982&amp;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]&amp;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&amp;from_uid=341256" ref="ncbi_uid=341256">V</a></span></span><span class="TLline"><a href="/medgen/341256" ref="tree=GTR&amp;ncbi_uid=341256&amp;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]&amp;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&amp;from_uid=280689" ref="ncbi_uid=280689">V</a></span></span><span class="TLline"><a href="/medgen/280689" ref="tree=GTR&amp;ncbi_uid=280689&amp;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]&amp;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&amp;from_uid=78692" ref="ncbi_uid=78692">V</a></span></span><span class="TLline"><a href="/medgen/78692" ref="tree=GTR&amp;ncbi_uid=78692&amp;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]&amp;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&amp;from_uid=124337" ref="ncbi_uid=124337">V</a></span></span><span class="TLline"><a href="/medgen/124337" ref="tree=GTR&amp;ncbi_uid=124337&amp;link_uid=124337" title="View MedGen record for 'Glutaric aciduria, type 1'">Glutaric aciduria, type 1</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=C0268575[DISCUI]&amp;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&amp;from_uid=82822" ref="ncbi_uid=82822">V</a></span></span><span class="TLline"><a href="/medgen/82822" ref="tree=GTR&amp;ncbi_uid=82822&amp;link_uid=82822" title="View MedGen record for 'Isovaleryl-CoA dehydrogenase deficiency'">Isovaleryl-CoA dehydrogenase 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=C0024776[DISCUI]&amp;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&amp;from_uid=6217" ref="ncbi_uid=6217">V</a></span></span><span class="TLline"><a href="/medgen/6217" ref="tree=GTR&amp;ncbi_uid=6217&amp;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&amp;ncbi_uid=78690&amp;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]&amp;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&amp;from_uid=343337" ref="ncbi_uid=343337">V</a></span></span><span class="TLline"><a href="/medgen/343337" ref="tree=GTR&amp;ncbi_uid=343337&amp;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]&amp;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&amp;from_uid=383668" ref="ncbi_uid=383668">V</a></span></span><span class="TLline"><a href="/medgen/383668" ref="tree=GTR&amp;ncbi_uid=383668&amp;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]&amp;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&amp;from_uid=443951" ref="ncbi_uid=443951">V</a></span></span><span class="TLline"><a href="/medgen/443951" ref="tree=GTR&amp;ncbi_uid=443951&amp;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&amp;ncbi_uid=199627&amp;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]&amp;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&amp;from_uid=1633312" ref="ncbi_uid=1633312">V</a></span></span><span class="TLline"><a href="/medgen/1633312" ref="tree=GTR&amp;ncbi_uid=1633312&amp;link_uid=1633312" title="View MedGen record for 'Methylcrotonyl-CoA carboxylase deficiency'">Methylcrotonyl-CoA carboxylase deficiency</a></span><ul><li class="matched_ds"><span class="chiclet_list"><span class="chiclet Ccolor round" title="Clinical test"><a target="_blank" href="/gtr/tests/?term=C0268600[DISCUI]&amp;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&amp;from_uid=78691" ref="ncbi_uid=78691">V</a></span></span><span class="TLline">3-methylcrotonyl-CoA carboxylase 1 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=C1859499[DISCUI]&amp;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&amp;from_uid=347898" ref="ncbi_uid=347898">V</a></span></span><span class="TLline"><a href="/medgen/347898" ref="tree=GTR&amp;ncbi_uid=347898&amp;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]&amp;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&amp;from_uid=120654" ref="ncbi_uid=120654">V</a></span></span><span class="TLline"><a href="/medgen/120654" ref="tree=GTR&amp;ncbi_uid=120654&amp;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]&amp;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&amp;from_uid=344419" ref="ncbi_uid=344419">V</a></span></span><span class="TLline"><a href="/medgen/344419" ref="tree=GTR&amp;ncbi_uid=344419&amp;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]&amp;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&amp;showtype=onebook" ref="ncbi_uid=341253">G</a></span><span class="chiclet Vcolor" title="ClinVar"><a target="_blank" href="/clinvar?LinkName=medgen_clinvar&amp;from_uid=341253" ref="ncbi_uid=341253">V</a></span></span><span class="TLline"><a href="/medgen/341253" ref="tree=GTR&amp;ncbi_uid=341253&amp;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]&amp;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&amp;from_uid=344424" ref="ncbi_uid=344424">V</a></span></span><span class="TLline"><a href="/medgen/344424" ref="tree=GTR&amp;ncbi_uid=344424&amp;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]&amp;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&amp;from_uid=344422" ref="ncbi_uid=344422">V</a></span></span><span class="TLline"><a href="/medgen/344422" ref="tree=GTR&amp;ncbi_uid=344422&amp;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]&amp;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&amp;from_uid=344420" ref="ncbi_uid=344420">V</a></span></span><span class="TLline"><a href="/medgen/344420" ref="tree=GTR&amp;ncbi_uid=344420&amp;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]&amp;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&amp;from_uid=75694" ref="ncbi_uid=75694">V</a></span></span><span class="TLline"><a href="/medgen/75694" ref="tree=GTR&amp;ncbi_uid=75694&amp;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="TLline"><a href="/medgen/1633312" ref="tree=MeSH" title="MedGen record for Methylcrotonyl-CoA carboxylase deficiency">Methylcrotonyl-CoA carboxylase deficiency</a></span><ul><li><span class="matched_ds">3-methylcrotonyl-CoA carboxylase 1 deficiency</span></li></ul></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&amp;data_id=156&amp;PatId=3297&amp;search=Disease_Classif_Simple&amp;new=1" class="ital bold">this link</a> to review classifications for <span class="ital">3-methylcrotonyl-CoA carboxylase 1 deficiency</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/36822454">Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng Y,
Chen P,
Yu Z,
Yin X,
Zhang C,
Miao H,
Huang X</span><br />
<span class="medgenPMjournal">Clin Chim Acta</span>
2023 Mar 1;542:117266.
Epub 2023 Feb 21
doi: 10.1016/j.cca.2023.117266.
<span class="bold">PMID: </span><a href="/pubmed/36822454" target="_blank">36822454</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31730530">3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang H,
Liu S,
Wang B,
Yang Y,
Yu B,
Wang L,
Wang T</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2019 Dec 18;32(12):1321-1326.
doi: 10.1515/jpem-2018-0536.
<span class="bold">PMID: </span><a href="/pubmed/31730530" target="_blank">31730530</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26566957">Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rips J,
Almashanu S,
Mandel H,
Josephsberg S,
Lerman-Sagie T,
Zerem A,
Podeh B,
Anikster Y,
Shaag A,
Luder A,
Staretz Chacham O,
Spiegel R</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2016 Mar;39(2):211-7.
Epub 2015 Nov 13
doi: 10.1007/s10545-015-9899-4.
<span class="bold">PMID: </span><a href="/pubmed/26566957" target="_blank">26566957</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=(3-methylcrotonyl-coa%20carboxylase%201%20deficiency)%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 (6)</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-OH.pdf" target="_blank">American College of Medical Genetics and Genomics, Newborn Screening ACT Sheet, Elevated C5-OH Acylcarnitine, Organic Acidemias, 2022</a></h3>
<h3 class="nl vspace"><a href="https://www.acmg.net/PDFLibrary/C5-OH-Elevated.pdf" target="_blank">American College of Medical Genetics and Genomics, Algorithm, Organic Acidemias: Elevated C5-OH, 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/31730530">3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang H,
Liu S,
Wang B,
Yang Y,
Yu B,
Wang L,
Wang T</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2019 Dec 18;32(12):1321-1326.
doi: 10.1515/jpem-2018-0536.
<span class="bold">PMID: </span><a href="/pubmed/31730530" target="_blank">31730530</a></div>
<div class="nl"><a target="_blank" href="/pubmed/29111448">Next generation sequencing as a follow-up test in an expanded newborn screening programme.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Smon A,
Repic Lampret B,
Groselj U,
Zerjav Tansek M,
Kovac J,
Perko D,
Bertok S,
Battelino T,
Trebusak Podkrajsek K</span><br />
<span class="medgenPMjournal">Clin Biochem</span>
2018 Feb;52:48-55.
Epub 2017 Oct 27
doi: 10.1016/j.clinbiochem.2017.10.016.
<span class="bold">PMID: </span><a href="/pubmed/29111448" target="_blank">29111448</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27033733">Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Forsyth R,
Vockley CW,
Edick MJ,
Cameron CA,
Hiner SJ,
Berry SA,
Vockley J,
Arnold GL;
Inborn Errors of Metabolism Collaborative</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2016 May;118(1):15-20.
Epub 2016 Feb 15
doi: 10.1016/j.ymgme.2016.02.002.
<span class="bold">PMID: </span><a href="/pubmed/27033733" target="_blank">27033733</a><a href="/pmc/articles/PMC5540133" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26566957">Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rips J,
Almashanu S,
Mandel H,
Josephsberg S,
Lerman-Sagie T,
Zerem A,
Podeh B,
Anikster Y,
Shaag A,
Luder A,
Staretz Chacham O,
Spiegel R</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2016 Mar;39(2):211-7.
Epub 2015 Nov 13
doi: 10.1007/s10545-015-9899-4.
<span class="bold">PMID: </span><a href="/pubmed/26566957" target="_blank">26566957</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-methylcrotonyl-CoA%20carboxylase%201%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 (4)</a></div><h3 class="subhead">Diagnosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/36822454">Newborn screening for 3-methylcrotonyl-CoA carboxylase deficiency in Zhejiang province, China.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Cheng Y,
Chen P,
Yu Z,
Yin X,
Zhang C,
Miao H,
Huang X</span><br />
<span class="medgenPMjournal">Clin Chim Acta</span>
2023 Mar 1;542:117266.
Epub 2023 Feb 21
doi: 10.1016/j.cca.2023.117266.
<span class="bold">PMID: </span><a href="/pubmed/36822454" target="_blank">36822454</a></div>
<div class="nl"><a target="_blank" href="/pubmed/31730530">3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang H,
Liu S,
Wang B,
Yang Y,
Yu B,
Wang L,
Wang T</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2019 Dec 18;32(12):1321-1326.
doi: 10.1515/jpem-2018-0536.
<span class="bold">PMID: </span><a href="/pubmed/31730530" target="_blank">31730530</a></div>
<div class="nl"><a target="_blank" href="/pubmed/26566957">Primary and maternal 3-methylcrotonyl-CoA carboxylase deficiency: insights from the Israel newborn screening program.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Rips J,
Almashanu S,
Mandel H,
Josephsberg S,
Lerman-Sagie T,
Zerem A,
Podeh B,
Anikster Y,
Shaag A,
Luder A,
Staretz Chacham O,
Spiegel R</span><br />
<span class="medgenPMjournal">J Inherit Metab Dis</span>
2016 Mar;39(2):211-7.
Epub 2015 Nov 13
doi: 10.1007/s10545-015-9899-4.
<span class="bold">PMID: </span><a href="/pubmed/26566957" target="_blank">26566957</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25381946">An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kör D,
Mungan NÖ,
Yılmaz BŞ,
Öktem M</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2015 May;28(5-6):669-71.
doi: 10.1515/jpem-2014-0302.
<span class="bold">PMID: </span><a href="/pubmed/25381946" target="_blank">25381946</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22642865">3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grünert SC,
Stucki M,
Morscher RJ,
Suormala T,
Bürer C,
Burda P,
Christensen E,
Ficicioglu C,
Herwig J,
Kölker S,
Möslinger D,
Pasquini E,
Santer R,
Schwab KO,
Wilcken B,
Fowler B,
Yue WW,
Baumgartner MR</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2012 May 29;7:31.
doi: 10.1186/1750-1172-7-31.
<span class="bold">PMID: </span><a href="/pubmed/22642865" target="_blank">22642865</a><a href="/pmc/articles/PMC3495011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-methylcrotonyl-CoA%20carboxylase%201%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 (16)</a></div><h3 class="subhead">Therapy</h3>
<div class="nl"><a target="_blank" href="/pubmed/27573455">A Case of Increased C5-OH Acylcarnitine.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Peake RW</span><br />
<span class="medgenPMjournal">Clin Chem</span>
2016 Sep;62(9):1278-9.
doi: 10.1373/clinchem.2016.257600.
<span class="bold">PMID: </span><a href="/pubmed/27573455" target="_blank">27573455</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-methylcrotonyl-CoA%20carboxylase%201%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 (1)</a></div><h3 class="subhead">Prognosis</h3>
<div class="nl"><a target="_blank" href="/pubmed/31730530">3-Methylcrotonyl-CoA carboxylase deficiency newborn screening in a population of 536,008: is routine screening necessary?</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Wang H,
Liu S,
Wang B,
Yang Y,
Yu B,
Wang L,
Wang T</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2019 Dec 18;32(12):1321-1326.
doi: 10.1515/jpem-2018-0536.
<span class="bold">PMID: </span><a href="/pubmed/31730530" target="_blank">31730530</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27417235">A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zandberg L,
van Dyk HC,
van der Westhuizen FH,
van Dijk AA</span><br />
<span class="medgenPMjournal">Int J Biochem Cell Biol</span>
2016 Sep;78:116-129.
Epub 2016 Jul 12
doi: 10.1016/j.biocel.2016.07.010.
<span class="bold">PMID: </span><a href="/pubmed/27417235" target="_blank">27417235</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27033733">Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Forsyth R,
Vockley CW,
Edick MJ,
Cameron CA,
Hiner SJ,
Berry SA,
Vockley J,
Arnold GL;
Inborn Errors of Metabolism Collaborative</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2016 May;118(1):15-20.
Epub 2016 Feb 15
doi: 10.1016/j.ymgme.2016.02.002.
<span class="bold">PMID: </span><a href="/pubmed/27033733" target="_blank">27033733</a><a href="/pmc/articles/PMC5540133" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/24103308">Analysis of cases of 3-methylcrotonyl CoA carboxylase deficiency (3-MCCD) in the California newborn screening program reported in the state database.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Lam C,
Carter JM,
Cederbaum SD,
Neidich J,
Gallant NM,
Lorey F,
Feuchtbaum L,
Wong DA</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2013 Dec;110(4):477-83.
Epub 2013 Sep 17
doi: 10.1016/j.ymgme.2013.09.006.
<span class="bold">PMID: </span><a href="/pubmed/24103308" target="_blank">24103308</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22642865">3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grünert SC,
Stucki M,
Morscher RJ,
Suormala T,
Bürer C,
Burda P,
Christensen E,
Ficicioglu C,
Herwig J,
Kölker S,
Möslinger D,
Pasquini E,
Santer R,
Schwab KO,
Wilcken B,
Fowler B,
Yue WW,
Baumgartner MR</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2012 May 29;7:31.
doi: 10.1186/1750-1172-7-31.
<span class="bold">PMID: </span><a href="/pubmed/22642865" target="_blank">22642865</a><a href="/pmc/articles/PMC3495011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-methylcrotonyl-CoA%20carboxylase%201%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 (8)</a></div><h3 class="subhead">Clinical prediction guides</h3>
<div class="nl"><a target="_blank" href="/pubmed/27417235">A 3-methylcrotonyl-CoA carboxylase deficient human skin fibroblast transcriptome reveals underlying mitochondrial dysfunction and oxidative stress.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Zandberg L,
van Dyk HC,
van der Westhuizen FH,
van Dijk AA</span><br />
<span class="medgenPMjournal">Int J Biochem Cell Biol</span>
2016 Sep;78:116-129.
Epub 2016 Jul 12
doi: 10.1016/j.biocel.2016.07.010.
<span class="bold">PMID: </span><a href="/pubmed/27417235" target="_blank">27417235</a></div>
<div class="nl"><a target="_blank" href="/pubmed/27033733">Outcomes of cases with 3-methylcrotonyl-CoA carboxylase (3-MCC) deficiency - Report from the Inborn Errors of Metabolism Information System.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Forsyth R,
Vockley CW,
Edick MJ,
Cameron CA,
Hiner SJ,
Berry SA,
Vockley J,
Arnold GL;
Inborn Errors of Metabolism Collaborative</span><br />
<span class="medgenPMjournal">Mol Genet Metab</span>
2016 May;118(1):15-20.
Epub 2016 Feb 15
doi: 10.1016/j.ymgme.2016.02.002.
<span class="bold">PMID: </span><a href="/pubmed/27033733" target="_blank">27033733</a><a href="/pmc/articles/PMC5540133" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25382614">Identification of eight novel mutations and transcript analysis of two splicing mutations in Chinese newborns with MCC deficiency.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Yang L,
Yang J,
Zhang T,
Weng C,
Hong F,
Tong F,
Yang R,
Yin X,
Yu P,
Huang X,
Qi M</span><br />
<span class="medgenPMjournal">Clin Genet</span>
2015 Nov;88(5):484-8.
Epub 2014 Dec 23
doi: 10.1111/cge.12535.
<span class="bold">PMID: </span><a href="/pubmed/25382614" target="_blank">25382614</a></div>
<div class="nl"><a target="_blank" href="/pubmed/25381946">An asymptomatic mother diagnosed with 3-methylcrotonyl-CoA carboxylase deficiency after newborn screening.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Kör D,
Mungan NÖ,
Yılmaz BŞ,
Öktem M</span><br />
<span class="medgenPMjournal">J Pediatr Endocrinol Metab</span>
2015 May;28(5-6):669-71.
doi: 10.1515/jpem-2014-0302.
<span class="bold">PMID: </span><a href="/pubmed/25381946" target="_blank">25381946</a></div>
<div class="nl"><a target="_blank" href="/pubmed/22642865">3-methylcrotonyl-CoA carboxylase deficiency: clinical, biochemical, enzymatic and molecular studies in 88 individuals.</a></div>
<div class="portlet_content ln"><span class="medgenPMauthor">Grünert SC,
Stucki M,
Morscher RJ,
Suormala T,
Bürer C,
Burda P,
Christensen E,
Ficicioglu C,
Herwig J,
Kölker S,
Möslinger D,
Pasquini E,
Santer R,
Schwab KO,
Wilcken B,
Fowler B,
Yue WW,
Baumgartner MR</span><br />
<span class="medgenPMjournal">Orphanet J Rare Dis</span>
2012 May 29;7:31.
doi: 10.1186/1750-1172-7-31.
<span class="bold">PMID: </span><a href="/pubmed/22642865" target="_blank">22642865</a><a href="/pmc/articles/PMC3495011" target="_blank" class="PubMedFree">Free PMC Article</a></div>
<div><a target="_blank" href="https://pubmed.ncbi.nlm.nih.gov/?term=%223-methylcrotonyl-CoA%20carboxylase%201%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 (6)</a></div></div>
</div>
</div></div></div></div></div></div></div>
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<h2 class="offscreen_noflow">Supplemental Content</h2>
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<!-- MedGen supplemental column starts here -->
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<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=C0268600%5bDISCUI%5d&amp;filter=method%3A1%5F1" target="_blank">Analyte (4)</a></li>
<li><a href="/gtr/tests?term=C0268600%5bDISCUI%5d&amp;filter=method%3A2%5F8" target="_blank">Deletion/duplication analysis (38)</a></li>
<li><a href="/gtr/tests?term=C0268600%5bDISCUI%5d&amp;filter=method%3A1%5F2" target="_blank">Enzyme assay (1)</a></li>
<li><a href="/gtr/tests?term=C0268600%5bDISCUI%5d&amp;filter=method%3A2%5F17" target="_blank">Mutation scanning of the entire coding region (1)</a></li>
<li><a href="/gtr/tests?term=C0268600%5bDISCUI%5d&amp;filter=method%3A2%5F9" target="_blank">Sequence analysis of select exons (5)</a></li>
<li><a href="/gtr/tests?term=C0268600%5bDISCUI%5d&amp;filter=method%3A2%5F7" target="_blank">Sequence analysis of the entire coding region (48)</a></li>
<li><a href="/gtr/tests?term=C0268600%5bDISCUI%5d&amp;filter=method%3A2%5F19" target="_blank">Targeted variant analysis (13)</a></li>
<li class="portletSeeAll portletSeeAllPad"><total><a href="/gtr/tests?term=C0268600%5bDISCUI%5d" target="_blank">See all (61)</a></total></li>
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