Pyruvate carboxylase deficiency

Description

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 deficiency
Ataxia with lactic acidosis type II

Exclusions from above levels

http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
5A71.01 – Congenital adrenal hyperplasia

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5A81.1 – 5-alpha-reductase deficiency
LD28.01 – Marfan syndrome
LD28.1 – Ehlers-Danlos syndrome
LD2A.4 – androgen resistance syndrome
18 – Pregnancy, childbirth or the puerperium
http://id.who.int/icd/entity/1004987305 – Transitory endocrine or metabolic disorders specific to fetus or newborn

Sibling codes

5C53.00 – Pyruvate kinase deficiency
5C53.01 – Lactate dehydrogenase deficiency
5C53.02 – Pyruvate dehydrogenase complex deficiency
5C53.0Y – Other specified disorders of pyruvate metabolism
5C53.0Z – Disorders of pyruvate metabolism, unspecified

Foundation entity

Pyruvate carboxylase deficiency – http://id.who.int/icd/entity/2047948460

Part of: 5C53.0: Disorders of pyruvate metabolism › 5C53: Inborn errors of energy metabolism › 05: Endocrine, nutritional or metabolic diseases