Phenylketonuria (known as PKU) is an inherited metabolic disease affecting the brain through increased levels of a substance called phenylalanine (Phe) in the blood. An amino acid, Phe is a building block of protein and is found in all proteins, most foods, and in some artificial sweeteners.

The NPKUA works to improve the lives of individuals with PKU by providing educational services for the full life spectrum; initial diagnosis, school age, teen and adult support, and maternal health. The educational pieces and information available in this section will cover the technical, practical, and emotional details of living with PKU.