3-methylcrotonyl-CoA carboxylase deficiency

Summary

DOID:0050710 - 3-methylcrotonyl-CoA carboxylase deficiency

Disease Ontology Definition:An amino acid metabolic disorder that is classified by 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: 3MCC deficiency, 3-Methylcrotonylglycinuria, BMCC deficiency

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: mccc1, mccc2

Mondo Disease Ontology (on Monarch Initiative):

MONDO:0018950 - 3-methylcrotonyl-CoA carboxylase deficiency

MONDO:0018950 - 3-methylcrotonyl-CoA carboxylase deficiency

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

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

Parent(s): amino acid metabolic disorder (is_a), autosomal recessive disease (is_a), muscular disease (is_a)