Search Ontology:
Human Disease

3-methylcrotonyl-CoA carboxylase deficiency

Term ID
DOID:0050710
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
  • GARD:10954
  • MIM:PS210200
  • ORDO:6
Ontology
Human Disease   ( DOID:0050710 )
Relationships
is a type of
has subtype
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