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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.
Phenylketonuria (PKU), or phenylalanine hydroxylase (PAH) deficiency, is a lifelong, inborn error of metabolism that causes an amino acid, known as phenylalanine (Phe) to build up in the blood.