ICD·index Chapters ENESDE
5C53.03 category

Pyruvate carboxylase deficiency

Definition

This is a deficiency in the enzyme of the ligase class that catalyzes the (depending on the species) irreversible carboxylation of pyruvate to form oxaloacetate (OAA).

Also indexed as

Ataxia with lactic acidosis type IIPyruvate carboxylase deficiency

Nearby in Disorders of pyruvate metabolism