3-methylcrotonyl-CoA carboxylase deficiency
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.
MONDO:0019215
classic organic aciduria
is_a
3-MCC deficiency
exact
3-methylcrotonyl-CoA carboxylase deficiency
exact
3-methylcrotonylglycinuria
exact
MCC deficiency
exact
MCCD
exact
Methylcrotonyl-CoA carboxylase deficiency
exact