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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.
Mutations in the PAH gene cause phenylketonuria. The PAH gene provides instructions for making an enzyme called phenylalanine hydroxylase. This enzyme converts the amino acid phenylalanine to other important compounds in the body.f PKU is not treated, phenylalanine can build up to harmful levels in the body, causing intellectual disability and other serious health problems. The signs and symptoms of PKU vary from mild to severe. The most severe form of this disorder is known as classic PKU.