Tehran University of Medical Sciences Iranian Journal of Public Health 2251-6085 46 4 2017 04 26 560 564 Masoumeh RAZIPOUR Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran Daniz KOOSHAVAR Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran Elaheh ALAVINEJAD Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran Seyede Zahra SAJEDI Dept. of Medical Genetics, School of Medicine, Tabriz University of Medical Sciences, Tabriz, Iran AND Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran Neda MOHAJER Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran Aria SETOODEH Dept. of Endocrinology, Children’s Hospital Medical Center, Tehran University of Medical Sciences, Tehran, Iran Saeed TALEBI Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran Mohammad KERAMATIPOUR Dept. of Medical Genetics, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran 2017 04 26 2017 04 26 Phenylketonuria (PKU) is an inborn error of amino acid metabolism with an autosomal recessive inheritance caused in most cases by mutations in the phenylalanine hydroxylase (PAH) gene. PKU has wide allelic heterogeneity. Here we report a novel heterozygous substitution (c.1223G>T (p.Arg408Leu)) in the PAH gene in an Iranian PKU family. The patient was 19-yr-old female with diagnosis of moderate PKU referred to Department of Medical Genetics, Tehran University of Medical Sciences, Tehran, Iran for genetic counseling/analysis in April 2015. We used PCR-Sequencing to identify any sequence variations in the PAH gene.     https://ijph.tums.ac.ir/index.php/ijph/article/view/9767 https://ijph.tums.ac.ir/index.php/ijph/article/download/9767/5663