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5C53.03 Pyruvate carboxylase deficiency

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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).

synonyms

• Pyruvate carboxylase deficiency
• Ataxia with lactic acidosis type II

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