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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