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

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...

Descripción completa

Detalles Bibliográficos
Autores principales: Soltani, Ziba, Karami, Fatemeh, Yassaee, Vahidreza, Hashemi Gorji, Feyzollah, Talebzadeh, Mahdieh, Miryounesi, Mohammad
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Kowsar 2016
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4862320/
https://www.ncbi.nlm.nih.gov/pubmed/27175306
http://dx.doi.org/10.5812/ircmj.21633
Descripción
Sumario: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.

Ejemplares similares