" /> Tyrosinaemia type 1 - CISMeF





ICD-11 code : 5C50.11;

Preferred Label : Tyrosinaemia type 1;

ICD-11 definition : Tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by hepatorenal manifestations. The early-onset acute form of the disorder manifests between 15 days and 3 months after birth with hepatocellular necrosis. Septicemia 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.;

ICD-11 synonym : Fumarylacetoacetase deficiency; Hepatorenal tyrosinaemia; Tyrosinosis; Hypertyrosinaemia; Tyrosinaemia;

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Tyrosinemia type 1 is an inborn error of amino acid metabolism characterized by hepatorenal manifestations. The early-onset acute form of the disorder manifests between 15 days and 3 months after birth with hepatocellular necrosis. Septicemia 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.

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02/05/2025


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