What is pku?

Phenylketonuria: It is an inherited metabolic disorder which if left untreated causes mental retardation in affected children. All states have programs to screen newborns for pku as it can be treated with a diet low in phenylalanine, an amino acid.

Inherited disease: Phenylketonuria is inherited (autosomal recessive) disease in which the amount of phenylalanine hydroxylase in the body is inadequate to breakdown the Amino Acid phenylalanine, resulting in mental retardation. All babies are tested today to identify this problem, and dietary changes are made to decrease the amount of phenylalanine intake.