/3-methylcrotonyl-CoA carboxylase deficiency

3-methylcrotonyl-CoA carboxylase deficiency

Rare Disease

MONDO:0018950

Also Known As

3-MCC deficiency3-methylcrotonyl-CoA carboxylase deficiency3-methylcrotonylglycinuria3MCC deficiencyBMCC deficiencyMCC deficiencyMCCDMethylcrotonyl-CoA carboxylase deficiencymethylcrotonylglycinuria

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.