5C50.11

ICD-11 MMS 2026-01

Tyrosinaemia type 1

Description

Tyrosinemia type 1 is an inborn error of amino acid metabolism characterised by hepatorenal manifestations. The early-onset acute form of the disorder manifests between 15 days and 3 months after birth with hepatocellular necrosis. Septicaemia is a frequent complication. Renal tubular dysfunction occurs and is associated with phosphate loss and hypophosphatemic rickets. A later onset form has also been described and manifests with vitamin-resistant rickets caused by renal tubular dysfunction.

Index terms

  • Tyrosinaemia type 1
  • Fumarylacetoacetase deficiency
  • Hepatorenal tyrosinaemia
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  • Hypertyrosinaemia
  • Tyrosinaemia
  • Tyrosinosis

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

  • 5C50.10 – Alkaptonuria
  • 5C50.12 – Tyrosinaemia type 2
  • 5C50.1Y – Other specified disorders of tyrosine metabolism
  • 5C50.1Z – Disorders of tyrosine metabolism, unspecified

Foundation entity

Tyrosinaemia type 1 – http://id.who.int/icd/entity/2029519782

Part of: 5C50.1: Disorders of tyrosine metabolism › 5C50: Inborn errors of amino acid or other organic acid metabolism › 05: Endocrine, nutritional or metabolic diseases