First Case Report of EX3del4765 Mutation in PAH Gene in Asian Population

INTRODUCTIONPhenylketonuria (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 PRESENTATIONWe 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. CONCLUSIONSThis finding may help improve early detection, differential diagnosis, genetic counseling, and even treatment of patients with PKU.