Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

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All Diseases > Phenylketonuria

Phenylketonuria (PKU)

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

Phenylketonuria
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Phenylalanine Families and Researchers Exploring Evidence (PHEFREE)

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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.