5C50.A0

ICD-11 MMS 2026-01

Argininosuccinic aciduria

Description

Argininosuccinic aciduria is an autosomal recessive inherited deficiency of argininosuccinate lyase, an enzyme involved in the urea cycle that leads to severe hyperammonemic coma in neonates or, in childhood, to hypotonia, growth failure, anorexia and chronic vomiting or behavioural disorders. Onset can also occur later with hyperammonemic coma or behavioural disorders that simulate psychiatric disorders.

Index terms

  • Argininosuccinic aciduria
  • Argininosuccinase deficiency
  • Argininosuccinate lyase deficiency
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  • argininosuccinic acidaemia
  • metabolic disorder of arginosuccinic acid

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.A1 – Carbamoylphosphate synthetase deficiency
  • 5C50.A2 – Argininaemia
  • 5C50.A3 – Citrullinaemia
  • 5C50.AY – Other specified disorders of urea cycle metabolism
  • 5C50.AZ – Disorders of urea cycle metabolism, unspecified

Foundation entity

Argininosuccinic aciduria – http://id.who.int/icd/entity/439383288

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