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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.
slide 2 of 5. Phenylketonuria (PKU) Genetics: Mutation of the PAH Gene Phenylketonuria is caused by a mutation of the phenylalanine hydroxylase (PAH) gene which is found in the q arm of chromosome 12. The PAH gene gives specific instructions for the production of the enzyme phenylalanine hydroxylase that converts phenylalanine to tyrosine.