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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.
Classical PKU, and its less severe forms mild PKU and mild hyperphenylalaninemia are caused by a mutated gene for the enzyme phenylalanine hydroxylase (PAH), which converts the amino acid phenylalanine (Phe) to other essential compounds in the body, in particular tyrosine.KU is an inherited disease. When an infant is diagnosed with PKU, it is never the result of any action of the parents or any environmental factor. Rather, for a child to inherit PKU, both of his or her parents must have at least one mutated allele of the PAH gene.