First Case Report of Ex3del4765 Mutation in Pah Gene in Asian Population Publisher



Soltani Z¹ ; Karami F² ; Yassaee V¹ ; Hashemigorji F¹ ; Talebzadeh M¹ ; Miryounesi M¹
Source: Iranian Red Crescent Medical Journal Published:2016

Abstract

Introduction: Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism, which is caused by mutation in phenylalanine hydroxylase (PAH) gene. Most of the PAH mutations are missense mutations (67%), which are followed by small or large deletions (13%). Case Presentation: We reported a patient with classic PKU and his parents harboring a large deletion in exon 3 (EX3del4765) of PAH gene. This is the first case report of EX3del4765 in Asian patients with PKU. Conclusions: This finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU. © 2016, Iranian Red Crescent Medical Journal.