5C53.03
Pyruvate carboxylase deficiency
Deficiência de piruvato carboxilase
CategoryDefinition
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).
Index Terms
Pyruvate carboxylase deficiencyAtaxia with lactic acidosis type II