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 …

Phenylalanine hydroxylase (PAH) deficiency is responsible for most cases of
phenylketonuria (PKU). Furthermore, numerous studies on BH4-sensitive PAH deficiency …

Phenylketonuria (PKU) is one of the most common known inherited metabolic diseases. The
present study aimed to investigate the status of molecular defects in phenylalanine …

Phenylketonuria (PKU) is an autosomal recessive disorder of phenylalanine metabolism,
mostly caused by PAH gene variants. The aim of this study was to identify the frequency of …

Background: Phenylketonuria is a common inborn defect of amino acid metabolism in the
world. This failure is caused by an autosomal recessive insufficiency of the hepatic enzyme …

Objectives Phenylalanine hydroxylase (PAH) is predominantly a hepatic enzyme that
catalyzes phenylalanine (Phe) into tyrosine, which is the rate-limiting step in Phe catabolism …

Neonatal screening for phenylketonuria (PKU, OMIM: 261600) was introduced at the end of
the 1960s. We developed a rapid and simple molecular test for the most frequent …

A molecular-genetic study of the full mutation spectrum in phenylketonuria (PKU) in patients
from Georgia was conducted for the first time. The frequency of PKU according to neonatal …

Background: Phenylketonuria is an inborn metabolic disorder inherited in an autosomal
recessive pattern. The detection of pathogenic variations improves the power of at-risk …