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.