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

3-methylcrotonyl-CoA carboxylase 1 deficiency

Disease Summary
Associated Targets (2)
Tbio

2


Mondo Description Any 3-methylcrotonyl-CoA carboxylase deficiency in which the cause of the disease is a mutation in the MCCC1 gene.
Uniprot Description An autosomal recessive disorder of leucine catabolism. The phenotype is variable, ranging from neonatal onset with severe neurological involvement to asymptomatic adults. There is a characteristic organic aciduria with massive excretion of 3-hydroxyisovaleric acid and 3-methylcrotonylglycine, usually in combination with a severe secondary carnitine deficiency.
Mondo Term and Equivalent IDs
MONDO:0008861:  3-methylcrotonyl-CoA carboxylase 1 deficiency
DOID:0080579: 
GARD:0005665: 
MESH:C535308: 
UMLS:CN028786: