Journal des troubles génétiques et rapports génétiques

Phenylketonuria and Genetics

Ittan SP

Phenylketonuria is a disorder affecting the levels of aromatic amino acid, phenylalanine. It results from the deficiency of phenylalanine hydroxylase (PAH) and if untreated it can result in intellectual disability. The incidence of Phenylketonuria (PKU) is 1 in 13,500 to 19,000 births in the United States.