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All Diseases > Phenylketonuria
Alternative Names: Phenylalanine Hydroxylase Deficiency (PAH Deficiency)
Disease Category: Phenylketonuria
A genetic metabolic disorder that increases the body's levels of the amino acid phenylalanine. People with PKU cannot properly break down the extra phenylalanine in the food they eat, which allows it to build up in the person's blood, urine, and body. When left untreated, phenylalanine can build up to harmful levels. PKU varies from mild to severe. The most severe form is known as classic PKU. Without treatment, children with classic PKU develop permanent intellectual disabilities.
Research groups studying this disease
Phenylalanine Families and Researchers Exploring Evidence (PHEFREE)View Disease Definition
National PKU Alliance
A collaboration of phenylketonuria (PKU) community members joining together as a national voice and supporting local efforts to raise PKU awareness and drive advocacy and education, while ultimately looking for a cure.