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Phenylketonuria (PKU) is an inherited disorder where the body cannot break down 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 that 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. People with PKU must follow a low protein diet their whole life.

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Last reviewed: February 2020

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Phenylketonuria (or PKU) is an inherited disorder, that, left untreated, changes cells inside the brain and can lead to mental retardation.

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Phenylketonuria - Lab Tests Online AU

Inheritance of this disorder results in a build-up of phenylalanine (a protein component) in the blood.

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