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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
Authors

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.
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