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PKU is a disruption in normal metabolism. Normally, an enzyme* in the body called phenylalanine hydroxylase (fen-il-AL-a-neen hy-DROK-si-lase) changes the essential amino acid* phenylalanine to another needed amino acid called tyrosine (TY-ro-seen). If phenylalanine hydroxylase is missing, as it is in PKU, phenylalanine builds up in the blood and passes out of the body in urine.
