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How many people are affected by or at risk for phenylketonuria (PKU)?

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Experts estimate that PKU occurs in 1 of 10,000 to 15,000 newborns in the United States.1

Some genetic disorders, including PKU, develop more often among people whose ancestors come from a particular region. People originally from the same region frequently share versions of their genes that have been passed down from common ancestors. These can include genes with mutations or changes that can cause PKU.

In the United States, PKU is most common in people of European or Native American ancestry. It is much less common among people of African, Hispanic, or Asian ancestry.2


  1. Genetics Home Reference. (2012). Phenylketonuria. Retrieved May 15, 2012, from http://ghr.nlm.nih.gov/condition/phenylketonuria [top]
  2. Kaye, C. I., Committee on Genetics, Accurso, F., La Franchi, S., Lane, P. A., Hope, N., et al. (2006). Newborn screening fact sheets. Pediatrics, 118(3), e934–963. [top]

Last Updated Date: 10/23/2013
Last Reviewed Date: 08/23/2013
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