Author/Authors :
Soltani، Ziba نويسنده Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran , , Karami، Fatemeh نويسنده , , Yassaee، Vahidreza نويسنده Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran , , Hashemi Gorji، Feyzollah نويسنده Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran , , Talebzadeh، Mahdieh نويسنده Genomic Research Center, Shahid Beheshti University of Medical Sciences, Tehran, IR Iran , , Miryounesi، Mohammad نويسنده Genomic Research Center, School of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran. ,
Abstract :
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%). 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. This finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU.
