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 …

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

Abstract Egypt is a Mediterranean North African country (Fig. 8.1). This strategic position
attracted many invaders throughout its history. Therefore, in addition to its Pharaonic origin …

Objective (s): Phenylketonuria (PKU) is a genetic inborn error of phenylalanine (Phe)
metabolism resulting from insufficiency in the hepatic enzyme, phenylalanine hydroxylase …

Phenylketonuria is an autosomal recessive inborn error of metabolism resulting from
phenylalanine hydroxylase deficiency. Genetic basis of phenylalanine hydroxylase …

Background: Deleterious mutations in the human gene phenylalanine hydroxylase (PAH)
encoding the phenylalanine hydroxylase enzyme give rise to classic phenylketonuria and …

Increased interest in the utilization of nutrition management of patients with phenylketonuria
is clear. Applications include a small measured amount of phenylalanine given in the form of …

Low phenylalanine pasta was produced for phenylketonuria (PKU) patients using de-gliadin
wheat flour mixed with pectin, gum arabic, and carboxymethylcellulose (CMC) at the levels …

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

The absence of a convenient, direct enzymatic assay for detecting phenylketonuria (PKU)
heterozygotes together with the difficulty of the molecular testing due to the large number of …