Phenylketonuria (PKU; also known as phenylalanine hydroxylase (PAH) deficiency) is an
autosomal recessive disorder of phenylalanine metabolism, in which especially high …

Phenylketonuria is the most prevalent disorder caused by an inborn error in aminoacid
metabolism. It results from mutations in the phenylalanine hydroxylase gene. Phenotypes …

Phenylketonuria (PKU) is an autosomal recessive inborn error of metabolism caused by a
deficiency in the hepatic enzyme phenylalanine hydroxylase (PAH). If left untreated, the …

Background Phenylketonuria (PKU) is caused by phenylalanine hydroxylase (PAH)
deficiency that results in phenylalanine (Phe) accumulation. Pegvaliase, PEGylated …

Phenylalanine hydroxylase deficiency is an autosomal recessive disorder that results in
intolerance to the dietary intake of the essential amino acid phenylalanine. It occurs in …

Introduction We report the practical, social and psychological issues of living with
phenylketonuria (PKU) from one of the largest surveys that has been completed by both …

Blood phenylalanine (Phe) levels provide a practical and reliable method for the diagnosis
and monitoring of metabolic status in patients with phenylketonuria (PKU). To assess the …

Objective Assess current management practices of phenylketonuria (PKU) clinics across the
United States (US) based on the key treatment metrics of blood phenylalanine (Phe) …

▪ Abstract Nutritional genomics has tremendous potential to change the future of dietary
guidelines and personal recommendations. Nutrigenetics will provide the basis for …

Background Phenylketonuria is an inherited disease caused by impaired activity of
phenylalanine hydroxylase, the enzyme that converts phenylalanine to tyrosine, leading to …