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 …

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. To provide health care providers, patients, and the general public with a
responsible assessment of currently available data regarding screening for and …

Background Early and strict dietary management of phenylketonuria is the only option to
prevent mental retardation. We aimed to test the efficacy of sapropterin, a synthetic form of …

Phenylketonuria (PKU) is caused by deficient activity of the enzyme phenylalanine
hydroxylase, needed to convert the essential amino acid (AA) phenylalanine (phe) to …

OBJECTIVE: To evaluate the ability of sapropterin dihydrochloride (pharmaceutical
preparation of tetrahydrobiopterin) to increase phenylalanine (Phe) tolerance while …

Phenylketonuria (PKU), an inborn error in phenylalanine metabolism, requires lifelong
nutrition management with a low-phenylalanine diet, which includes a phenylalanine-free …

BACKGROUND: Dietary phenylalanine restriction is the cornerstone of phenylketonuria
(PKU) management. However, there are no European consensus guidelines for its optimal …

Fifty-seven 7–14-year-old early-and continuously treated phenylketonuria (PKU) patients
and 65 matched controls performed a sustained attention task. PKU patients with plasma …

Although pathogenesis of phenylketonuria is not completely understood, a low
phenylalanine diet is effective to prevent severe neurological impairment, mental retardation …