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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) is an inherited disease that affects the breakdown of protein. High levels of the amino acid phenylalanine in the blood damage the nervous system and can also lead to mental handicap. Newborn babies with PKU are given a special diet low in phenylalanine.epending on the level of phenylalanine and tolerance for phenylalanine in the diet, PKU is classified into two different types: classic, which is the severe form, and moderate. Therefore, each patient needs an individualized treatment plan.