Skip Navigation
  Print Page

Phenylketonuria (PKU): Condition Information

Skip sharing on social media links
Share this:

Phenylketonuria (pronounced fen-l-kee-toh-NOOR-ee-uh), often called PKU, is an inherited disorder that that can cause intellectual and developmental disabilities (IDDs) if not treated. In PKU, the body can't process a portion of a protein called phenylalanine, which is in all foods containing protein. If the phenylalanine level gets too high, the brain can become damaged.

All children born in U.S. hospitals are tested routinely for PKU soon after birth, making it easier to diagnose and treat affected children early.

Children and adults who are treated early and consistently develop normally.1

Depending on the level of phenylalanine and tolerance for phenylalanine in the diet, PKU is classified into two different types: classic, which is the severe form, and moderate. Therefore, each patient needs an individualized treatment plan. Some people may benefit from a medication called sapropterin dihydrochloride (brand name Kuvan®) that treats the disorder.2


  1. NICHD. (2000, updated 2006). Report of the NIH consensus development conference on phenylketonuria (PKU): Screening and management. Retrieved May 15, 2012, from http://www.nichd.nih.gov/publications/pubs/pku/ [top]
  2. U.S. Food and Drug Administration. (2007, December). FDA Approves Kuvan for Treatment of Phenylketonuria (PKU), December 13, 2007. Retrieved June 22, 2012, from http://www.fda.gov/NewsEvents/Newsroom/PressAnnouncements/2007/ucm109039.htm [top]

Last Updated Date: 11/30/2012
Last Reviewed Date: 11/30/2012
Vision National Institutes of Health Home BOND National Institues of Health Home Home Storz Lab: Section on Environmental Gene Regulation Home Machner Lab: Unit on Microbial Pathogenesis Home Division of Intramural Population Health Research Home Bonifacino Lab: Section on Intracellular Protein Trafficking Home Lilly Lab: Section on Gamete Development Home Lippincott-Schwartz Lab: Section on Organelle Biology