Phenylketonuria (PKU) is an autosomal recessive inborn error of phenylalanine metabolism
caused by deficiency in the enzyme phenylalanine hydroxylase that converts phenylalanine …

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 …

New developments in the treatment and management of phenylketonuria (PKU) as well as
advances in molecular testing have emerged since the National Institutes of Health 2000 …

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 …

The same basic principles are used to deliver dietary treatment in PKU that was developed
sixty years ago. Dietary treatment is undoubtedly very successful, but it has gradually …

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

Mutations in the phenylalanine hydroxylase (PAH) gene result in phenylketonuria (PKU).
Tetrahydrobiopterin (BH4)‐responsive hyperphenylalaninemia has been recently described …

Background In 2014, recommendations for the nutrition management of phenylalanine
hydroxylase deficiency were published as a companion to the concurrently published …

OBJECTIVE: To determine the prevalence of and identify subjects with phenylketonuria
(PKU; phenylalanine hydroxylase deficiency) responsive to 6R-tetrahydrobiopterin (BH4) …