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...of the body to metabolize the amino acid phenylalanine. Phenylalanine is normally converted in the human body to tyrosine, another amino acid, by a specific organic catalyst, or enzyme, called phenylalanine hydroxylase. This enzyme is not active in individuals who have phenylketonuria.
However, when the phenylalanine hydroxylase enzyme is absent or deficient, phenylalanine abnormally accumulates in the blood and is toxic to brain tissue. Symptoms associated with PKU are typically absent in newborns. Affected infants may be abnormally drowsy and listless (lethargic) and have difficulties feeding.