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,

Echinobase Genes : mccc1


OMIM:

OMIM:210200 - 3-@methylcrotonyl-coa carboxylase 1 deficiency

OMIM:210210 - 3-@methylcrotonyl-coa carboxylase 2 deficiency

Other Model Organisms: AGR, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee