OBO ID: DOID:0050710
Term Name: 3-Methylcrotonyl-CoA carboxylase deficiency Search Ontology:
Synonyms:
  • 3-Methylcrotonylglycinuria
  • 3MCC deficiency
  • BMCC deficiency
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. (2)
References:
Ontology: Human Disease   (DOID:0050710)
OTHER 3-Methylcrotonyl-CoA carboxylase deficiency PAGES
GENES INVOLVED No data available
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None