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Phenylketonuria Definition: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.henylketonuria Definition: Phenylketonuria (PKU) is a genetic disorder that is characterized by an inability of the body to utilize the essential amino acid, phenylalanine.
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.