Phenylketonuria (PKU) is an inherited disorder that increases levels of an amino acid (a building block for proteins) in the blood called phenylalanine. Phenylalanine is a normal part of a healthy diet, and is found in protein as well as some artificial sweeteners.
In PKU, phenylalanyl can build up to harmful levels. causing cell changes inside the brain which can lead to intellectual disability.
Fortunately, through routine newborn screening, almost all affected babies are now diagnosed and treated early, allowing them to grow up with normal intelligence. Infants with PKU are commenced on a low protein (phenylalanine) diet which should be followed for life.
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Last reviewed: August 2016