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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.
PKU is a disorder caused by a missing or decreased enzyme called phenylalanine hydroxylase. Phenylalanine is not properly processed by the body. When there is too much phenylalanine in the diet, the substances that build up in the blood can gradually cause brain damage.