Term Name: 3-methylcrotonyl-CoA carboxylase deficiency
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.
Ontology: Human Disease [DOID:0050710]   ( DOID:0050710 )

Relationships
is a type of: amino acid metabolic disorder autosomal recessive disease muscular disease
has subtype: 3-methylcrotonyl-CoA carboxylase 1 deficiency 3-methylcrotonyl-CoA carboxylase 2 deficiency