First case report of EX3del4765 mutation in PAH gene in Asian Population

Abstract EN

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.