Phenylketonuria is caused by deficient activity of phenylalanine hydroxylase, an enzyme in the intermediary metabolism of the amino acid, phenylalanine, and is one of the most common inborn errors of metabolism. Untreated phenylketonuria produces the gradual onset of profound developmental disability in most, but not all, individuals. Neonatal screening allows for the early detection and treatment of infants with the disorder.
Apr. 01, 2021