Phenylketonuria (PKU) is an inherited autosomal recessive disorder of phenylalanine metabolism caused by a deficiency in the enzyme phenylalanine hydroxylase (PAH). The PAH gene (HGNC: 8582) located in 12q23.2 codes for the PAH enzyme that converts phenylalanine into tyrosine in the presence of mole...

Background: Phenylketonuria (PKU) is the most common inborn error of amino acid metabolism in Europe. The reasons underlying the high prevalence of heterozygous carriers are not clearly understood. We aimed to look for pathogenic PAH variant enrichment according to geographical areas and patients' e...

"Inborn errors of metabolism," first recognized 100 years ago by Garrod, were seen as transforming evidence for chemical and biological individuality. Phenylketonuria (PKU), a Mendelian autosomal recessive phenotype, was identified in 1934 by Asbjörn Fölling. It is a disease with impaired postnatal ...