Tyrosinaemia type 3 (Q65820)

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 to patients with neurologic manifestations including intellectual deficit and ataxia. It is the least frequent form of tyrosinemia.