In the category of rare inherited genetic disorders, phenylketonuria is a prominent example.
Here, the defective phenylalanine hydroxylase enzyme fails to catalyze conversion of …

Background: Hyperphenylalaninemia (HPA) is an autosomal recessive disorder that results
from a deficiency in the phenylalanine hydroxylase enzyme (PAH) or from a flaw in the …

Identification of molecular basis of phenylketonuria (PKU) in Iran has been accomplished
through the analysis of 248 unrelated chromosomes from 124 Iranian classic PKU subjects …

Phenylketonuria (PKU) is an autosomal recessive disease which results from mutations in
the phenylalanine hydroxylase (PAH) gene. The aim of this study was the identification of …

Phenylalanine hydroxylase (PAH) deficiency is caused by mutations in the PAH gene
(12q22-q24) resulting in a primary deficiency of the PAH enzyme activity, intolerance to the …

Phenylketonuria (PKU) is a metabolic disorder caused by mutations in the phenylalanine
hydroxylase (PAH) gene. After thalassemia, PKU is considered as the most common …

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 …

Background: Phenylketonuria as the most common genetic metabolic disorder is the result
of disruption of the phenylalanine hydroxylase gene. This study was carried out to explore …

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 …

Phenylketonuria is one of the most important congenital disorders and an autosomal
recessive metabolic disease that can cause irreversible brain damages, mental retardation …