5C50.A2

ICD-11 MMS 2026-01

Argininaemia

Description

Arginase deficiency is a rare autosomal recessive amino acid metabolism disorder characterised clinically by variable degrees of hyperammonemia, developing from about 3 years of age, and leading to progressive loss of developmental milestones and spasticity in the absence of treatment.

Index terms

  • Argininaemia
  • Arginase deficiency
  • Hyperargininaemia
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  • metabolic disorder of arginine
  • Arginine hyperaminoaciduria

Exclusions from above levels

  • 5C50.9 – Disorders of ornithine metabolism
  • 5C60.Y – Lysinuric protein intolerance
  • http://id.who.int/icd/entity/1191191920 – Disorders of lipoprotein metabolism or certain specified lipidaemias
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  • 3A10.Z – Hereditary haemolytic anaemia due to enzyme deficiency
  • 5A71.01 – Congenital adrenal hyperplasia
  • 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

  • 5C50.A0 – Argininosuccinic aciduria
  • 5C50.A1 – Carbamoylphosphate synthetase deficiency
  • 5C50.A3 – Citrullinaemia
  • 5C50.AY – Other specified disorders of urea cycle metabolism
  • 5C50.AZ – Disorders of urea cycle metabolism, unspecified

Foundation entity

Argininaemia – http://id.who.int/icd/entity/1619102598

Part of: 5C50.A: Disorders of urea cycle metabolism › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases