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.;
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.