a compound heterozygous hpd mutation in an iranian patient with hypertyrosinemia type iii

Background and aims: hypertyrosinemia type 3 (ht3) is an inherited error in tyrosine metabolism caused by a mutation in the 4-hydroxyphenylpyruvate dioxygenase (hpd) gene. here we report a one and half-year-old girl infant who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. materials and methods: the proband was one and half-year-old iranian girl who was diagnosed based on increased serum tyrosine levels and increased urinary excretion of p-hydroxyphenyl derivatives. in this study, we used whole-exome sequencing to identify the genetic reason for the disease and the funded mutation confirmed by sanger sequencing.results and conclusion: through whole-exome sequencing screening of heterozygotes c.413c>t (p.t138m) and c.75g.a (p.w25ter) in the hpd gene and genetically confirmed by sanger sequencing. there were heterozygous conditions c.413c>t (p.t138m) and c.75g.a (p.w25ter) in father and mother respectively. this mutation in her parents was also confirmed by sanger sequencing.