Pyruvate kinase deficiency

Description

This refers to an enzyme involved in glycolysis. It catalyzes the transfer of a phosphate group from phosphoenolpyruvate (PEP) to ADP, yielding one molecule of pyruvate and one molecule of ATP.

Index terms

Pyruvate kinase deficiency

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

5C53.01 – Lactate dehydrogenase deficiency
5C53.02 – Pyruvate dehydrogenase complex deficiency
5C53.03 – Pyruvate carboxylase deficiency
5C53.0Y – Other specified disorders of pyruvate metabolism
5C53.0Z – Disorders of pyruvate metabolism, unspecified

Foundation entity

Pyruvate kinase deficiency – http://id.who.int/icd/entity/1055568225

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