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Summary Literature (0)
DOID:0050710 - 3-Methylcrotonyl-CoA carboxylase deficiency


Disease Ontology Definition:An amino acid metabolic disorder that has_material_basis_in mutations in the MCCC1 and MCCC2 genes causing inadequate levels of the enzyme 3-methylcrotonyl-CoA carboxylase that helps break down proteins containing the amino acid leucine. This disease has_symptom muscular hypotonia (weak muscle tone), has_symptom muscular atrophy, has_symptom feeding difficulties, has_symptom recurrent episodes of vomiting and diarrhea, and has_symptom lethargy.

Synonyms: 3-Methylcrotonylglycinuria, 3MCC deficiency, BMCC deficiency

Referenced OMIM:
OMIM:210200 - 3-METHYLCROTONYL-CoA CARBOXYLASE 1 DEFICIENCY; MCC1D
OMIM:210210 - 3-METHYLCROTONYL-CoA CARBOXYLASE 2 DEFICIENCY; MCC2D

Human Disease Resources: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Xenbase Genes : mccc1, mccc2

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD
Parent(s): amino acid metabolic disorder (is_a)


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Version: 4.14.0
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