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Genetic and Rare Diseases Information Center (GARD)

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Other Names for this Disease
  • Folling disease
  • Oligophrenia phenylpyruvica
  • Phenylalanine hydroxylase deficiency
  • PKU
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Management Guidelines

Clinical Trials & Research for this Disease

  • lists trials that are studying or have studied Phenylketonuria. Click on the link to go to to read descriptions of these studies.
  • To help you stay up-to-date on ongoing PKU research visit the PKU News Web site.  Click on the link to view research information.

Medical Products

The medication(s) listed in the table(s) below have been approved by the Food and Drug Administration (FDA) for treatment of this condition. The FDA Office of Orphan Products Development designates "orphan products" for those that treat rare diseases affecting fewer than 200,000 Americans. The table(s) below may not be an exhaustive list of drugs or products used to treat this condition. There may be other products available that are not considered orphan products. To search for all FDA approved drugs, visit Drugs@FDA. You can find orphan products used to treat other conditions by searching the Orphan Drug Product Designation database.

Generic Name Sapropterin
Trade Name
(Manufacturer Name)
(Biomarin Pharmaceutical Inc.)
The FDA has approved this product to be used in this manner.
Indicated to reduce blood phenylalanine (Phe) levels in patients with hyperphenylalaninemia (HPA) due to tetrahydrobiopterin- (BH4-) responsive Phenylketonuria (PKU). Kuvan is to be used in conjunction with a Phe-restricted diet.
More Information about this product Drug Information Portal
Medline Plus Health Information