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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.
The first enzyme in the catabolic pathway for phenylalanine (Fig. 17-26), phenylalanine hydroxylase, catalyzes the hydroxylation of phenylalanine to tyrosine. A genetic defect in phenylalanine hydroxylase is responsible for the disease phenylketonuria (PKU).