5C50.11 Tyrosinaemia type 1

International Classification of Diseases for Mortality and Morbidity Statistics, 11th Revision, v2024-01

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.

synonyms

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

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