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Phenylketonuria (commonly known as PKU) is an inherited disorder that increases the levels of a substance called phenylalanine in the blood. Phenylalanine is a building block of proteins (an amino acid) that is obtained through the diet. It is found in all proteins and in some artificial sweeteners.
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.