Catalog

Tyrosinaemia type 3

No MMS code

Link to WHO Definition

Tyrosinaemia type 3 – http://id.who.int/icd/entity/745316952

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.