Pronounced: fen-ul-ke-to-NU-re-uhEn Español (Spanish Version)
Phenylketonuria (PKU) is an inherited metabolic disorder in which a person does not have the liver enzyme needed to break down phenylalanine. Phenylalanine is an amino acid found in proteins and some artificial sweeteners. Without this enzyme, phenylalanine can build up in the blood and become toxic to the brain.
Last reviewedAugust 2014by Michael Woods, MD
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