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Screening for Phenylketonuria


Clinical Summary of U.S. Preventive Services Task Force Recommendation


This document is a summary of the 2008 recommendation of the U.S. Preventive Services Task Force (USPSTF) on screening for phenylketonuria in newborns. This summary is intended for use by primary care clinicians.

Select for copyright and source information.


Population All Newborns
Recommendation Grade: A
Screening Tests

Screening for PKU is mandated in all 50 states. Methods of screening vary.

Three main methods are used to screen for PKU in the United States:

  1. Guthrie Bacterial Inhibition Assay (BIA)
  2. Automated fluorometric assay
  3. Tandem mass spectrometry
Timing of Screening

Infants who are tested within the first 24 hours after birth should receive a repeat screening test by 2 weeks of age.

Optimal timing of screening for premature infants and infants with illnesses is at or near 7 days of age, but in all cases before discharge from the newborn nursery.

Treatment

It is essential that phenylalanine restrictions be instituted shortly after birth to prevent the neurodevelopmental effects of PKU.

Other Relevant Recommendations from the USPSTF

Additional USPSTF recommendations regarding screening tests for newborns can be accessed at: http://www.ahrq.gov/clinic/cps3dix.htm#pediatric

For a summary of the evidence systematically reviewed in making this recommendation, please go to the full recommendation statement, and supporting documents.

Copyright and Source Information

This document is in the public domain within the United States. For information on reprinting, contact Randie Siegel, Director, Division of Printing and Electronic Publishing, Agency for Healthcare Research and Quality, 540 Gaither Road, Rockville, MD 20850.

Requests for linking or to incorporate content in electronic resources should be sent to: info@ahrq.gov.

AHRQ Publication No. 08-05-110-EF-3
Current as of March 2008


Internet Citation:

U.S. Preventive Services Task Force. Screening for Phenylketonuria in Newborns: Clinical Summary of U.S. Preventive Services Task Force Recommendation. AHRQ Publication No. 08-05-110-EF-3, March 2008. Agency for Healthcare Research and Quality, Rockville, MD. http://www.ahrq.gov/clinic/uspstf08/pku/pkusum.htm


 

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