Phenylketonuria (PKU; MIM #261600) is an autosomal recessive disorder caused by the deficiency of the enzyme phenylalanine hydroxylase (PAH; E.C.1.14.16.1), which is encoded by the phenylalanine hydroxylase gene (PAH, MIM * 612349; 12q23.2) [1]. This evidence concerns the gene PAH and phenylketonuria.