Tyrosinemia type III in an asymptomatic girl.

ABSTRACT: Tyrosinemia type 3 (HT3) is a rare inborn error of tyrosine metabolism caused by mutations in the HPD gene encoding 4-hydroxyphenyl-pyruvate dioxygenase, which is transmitted in an autosomal recessive trait. The disorder is characterized by tyrosine accumulation in body fluids and massive excretion of tyrosine derivatives into urine (www.orpha.net). Since it is the least frequent form of tyrosinemia, only few cases with the variable but rather mild clinical features have been described so far. We report an 11 year old girl presenting with no clinical symptoms and with normal mental development who has been diagnosed with HT3 through metabolic screening on the basis of elevated serum level of tyrosine ranging from 425 to 535 μmol/L (normal values: 29-86 μmol/L), and elevated urinary

SUBMITTER: Szymanska E 

PROVIDER: S-EPMC5471395 | biostudies-literature | 2015 Dec

REPOSITORIES: biostudies-literature