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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) (phenyl + ketone + -uria; /ËfinÉlËkitÉµnËjÊÉriÉ/) is an inborn error of metabolism involving impaired metabolism of phenylalanine, one of the amino acids.Phenylketonuria is caused by absent or virtually absent phenylalanine hydroxylase (PAH) enzyme activity.n people without PKU, the PAH enzyme breaks down any excess phenylalanine from these sources beyond what is needed by the body. However, if there is not enough of the PAH enzyme or its cofactor, then phenylalanine can build up in the blood and brain to toxic levels, affecting brain development and function.