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

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

Phenylalanine hydroxylase deficiency, traditionally known as phenylketonuria, results in the
accumulation of phenylalanine in the blood of affected individuals and was the first inborn …

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 …

Phenylketonuria (PKU) is a recessive disorder of phenylalanine metabolism due to
mutations in the gene for phenylalanine hydroxylase (PAH). Reduced PAH activity results in …

Psychiatric disorders are the leading cause of disability worldwide while the pathogenesis
remains unclear. Genome-wide association studies (GWASs) have made great …

This review examines the neural correlates of Gray's model (Gray and McNaughton, 2000;
McNaughton and Corr, 2004), supplemented by a fourth dimension: constraint (Carver …

The main debate in the treatment of Phenylketonuria (PKU) is whether adult patients need
the strict phenylalanine (Phe)-restricted diet. Physicians and patients lack evidence-based …

Objective: Phenylketonuria (PKU) is due to an inability to metabolize the amino acid
phenylalanine (Phe), leading to its accumulation in the brain. Phe levels can be controlled …