To date more than 1000 different variants in the PAH gene have been identified in patients
with phenylketonuria (PKU). In Iran, several studies have been performed to investigate the …

As one of the highest prevalence rates in the world, the prevalence of Phenylketonuria
(PKU) in Iran has been estimated at 16.5 per 100,000 neonates. The objective of this study …

Background Phenylketonuria (PKU) is a common metabolic disorder with great burden if left
untreated or undiagnosed. Genetic variations in the phenylalanine hydroxylase (PAH) gene …

Background: Phenylketonuria (PKU) is a genetic autosomal recessive disorder, which, if not
treated on time, can lead to mental retardation and severe developmental delay. The aim of …

Introduction: Phenylketonuria (PKU) is the most common inherited metabolic disease in Iran
that can be prevented by prenatal diagnostic tests (PND). This study was performed aimed …

Background Clinical advice may suggest discontinuing breastfeeding after the diagnosis of
phenylketonuria in infants as the only effective way to monitor the newborn's intake and …

Phenylalanine hydroxylase (PAH) deficiency is the most common cause of phenylketonuria
(PKU)–an autosomal recessive disorder of phenylalanine metabolism. The aim of this study …

Objectives Hearing loss is one of the most common heterogeneous complicated disorders
worldwide. We previously analyzed the results of published data on non-syndromic hearing …

Background Phenylketonuria (PKU) is the most common inborn error of amino acid
metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers …

Phenylketonuria (PKU), caused by phenylalanine hydroxylase (PAH) gene variants, is a
common autosomal inherited metabolic disease. So far, 1111 PAH variants have been …