5C50.21

ICD-11 MMS 2026-01

Urocanic aciduria

Description

This is an autosomal recessive metabolic disorder caused by a deficiency of the enzyme urocanase. It is a secondary disorder of histidine metabolism.

Index terms

  • Urocanic aciduria
  • Encephalopathy due to urocanase deficiency
  • Urocanase deficiency
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  • Urocanate hydratase 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

  • 5C50.20 – Histidinaemia
  • 5C50.2Y – Other specified disorders of histidine metabolism
  • 5C50.2Z – Disorders of histidine metabolism, unspecified

Foundation entity

Urocanic aciduria – http://id.who.int/icd/entity/61773927

Allowed postcoordination axes

Part of: 5C50.2: Disorders of histidine metabolism › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases