Phenylketonuria screening

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Yanira Gavidia, M.D.

Overview

Newborns are usually screened for phenylketonuria between the age of 6 to 14 days using either HPLC or Guthrie test. If results are positive, the test is usually repeated at 2 weeks of age to confirm or rule out the diagnosis.

Screening

  • Newborns are usually screened at day 6 to 14 following birth
  • Neonatal heel prick is used to obtain a blood sample for screening.
  • Screening for PKU is by usually either by HPLC test or by Guthrie test.[1]
  • If a test result returns positive, the test is typically repeated at 2 weeks of age to confirm or rule out the diagnosis.

References

  1. Zerjav Tansek M, Groselj U, Angelkova N, Anton D, Baric I, Djordjevic M; et al. (2015). "Phenylketonuria screening and management in southeastern Europe - survey results from 11 countries". Orphanet J Rare Dis. 10 (1): 68. doi:10.1186/s13023-015-0283-0. PMC 4451731. PMID 26025111.

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