3-methylcrotonyl-CoA carboxylase deficiency
3-methylcrotonyl-CoA carboxylase deficiency
Definition
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.
Also known as 3-MCC deficiency, 3-methylcrotonyl-CoA carboxylase deficiency, 3-methylcrotonylglycinuria, MCC deficiency, MCCD, Methylcrotonyl-CoA carboxylase deficiency — per MONDO