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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.
Genetic mutation. PKU is caused by a genetic mutation (change to the DNA) in the human phenylalanine hydroxylase (PAH) gene. There are many different types of mutations that can affect the PAH gene, all of which result in the body not producing a functioning PAH enzyme.KU is caused by a genetic mutation (change to the DNA) in the human phenylalanine hydroxylase (PAH) gene. There are many different types of mutations that can affect the PAH gene, all of which result in the body not producing a functioning PAH enzyme.