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 …

Phenylketonuria (PKU) is an inherited metabolic disease caused by phenylalanine
hydroxylase (PAH) deficiency. As the resulting high blood phenylalanine (Phe) …

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

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

Inherited white matter disorders (IWMDs) are a phenotypically and genotypically
heterogeneous group of disorders affecting the central nervous system (CNS) with or without …

Background Phenylketonuria (PKU) is a chronic inborn error of amino acid metabolism that
requires lifelong follow-up and intervention, which may represent strains on Quality of Life …

The clinical, nutritional, and neuropsychological data of 11 mild/moderate PKU patients after
one year of treatment with BH4 are evaluated. BH4 monotherapy was introduced at …

Phenylalanine hydroxylase (PAH) deficiency results in intolerance to the dietary intake of the
essential amino acid phenylalanine and produces a spectrum of disorders. The risk of …

Specific mutations in the gene encoding phenylalanine hydroxylase (PAH), located on
chromosome 12q22-24.1, are linked to tetrahydrobiopterin (BH4; sapropterin)-responsive …

The discovery of a pharmacological treatment for phenylketonuria (PKU) raised new
questions about function and dysfunction of phenylalanine hydroxylase (PAH), the enzyme …