ICD-11 MMS

05 Endocrine, nutritional or metabolic diseases

Metabolic disorders  (5C50-5D2Z)

Inborn errors of metabolism  (5C50-5C5Z)

5C53 Inborn errors of energy metabolism

5C53.0 Disorders of pyruvate metabolism

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

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