You are using an outdated browser. Please upgrade your browser to improve your experience.

3-methylcrotonyl-CoA carboxylase deficiency

Disease Summary
Associated Targets (2)
Tbio

2


GARD Rare
Mondo Description 3-methylcrotonyl-CoA carboxylase deficiency (3-MCCD) is an inherited disorder of leucine metabolism characterized by a highly variable clinical picture ranging from metabolic crisis in infancy to asymptomatic adults.
Disease Ontology Description 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.
Mondo Term and Equivalent IDs
MONDO:0018950:  3-methylcrotonyl-CoA carboxylase deficiency
GARD:0010954: 
NCIT:C98674: 
OMIMPS:210200: 
Orphanet:6: 
SCTID:13144005: 
UMLS:C0268600: 
UMLS:CN239165: