" /> Tyrosinaemia type 3 - CISMeF





Preferred Label : Tyrosinaemia type 3;

ICD-11 definition : Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate and a highly variable clinical picture ranging from asymptomatic patients patients with neurologic manifestations including intellectual deficit and ataxia. It is the least frequent form of tyrosinemia.;

ICD-11 synonym : 4-hydroxyphenylpyruvate dioxygenase deficiency; 4-hydroxyphenylpyruvic acid oxydase deficiency;

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Tyrosinemia type 3 is an inborn error of tyrosine metabolism characterised by mild hypertyrosinemia and increased urinary excretion of 4-hydroxyphenylpyruvate, 4-hydroxyphenyllactate and 4-hydroxyphenylacetate and a highly variable clinical picture ranging from asymptomatic patients patients with neurologic manifestations including intellectual deficit and ataxia. It is the least frequent form of tyrosinemia.

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25/05/2025


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