Maternal phenylketonuria

Christopher Cunniff, Jaime L. Frias, Celia Kaye, John B. Moeschler, Susan R. Panny, Tracy L. Trotter, Felix De La Cruz, John Williams, James W. Hanson, Cynthia A. Moore, Michele Lloyd-Puryear, H. Eugene Hoyme, Rebecca S. Wappner, Lauri Hall

Research output: Contribution to journalShort surveypeer-review

4 Scopus citations


Elevated maternal phenylalanine levels during pregnancy are teratogenic and may result in growth retardation, significant psychomotor handicaps, and birth defects in the offspring of unmonitored and untreated pregnancies. Women of childbearing age with all forms of phenylketonuria, including mild variants such as hyperphenylalaninemia, should receive counseling concerning their risks for adverse fetal effects optimally before conceiving. The best outcomes occur when strict control of maternal phenylalanine levels is achieved before conception and continued throughout the pregnancy.

Original languageEnglish (US)
Pages (from-to)427-428
Number of pages2
Issue number2
StatePublished - 2001
Externally publishedYes


  • PAH
  • PKU
  • Phe
  • Phenylalanine
  • Phenylalanine hydroxylase
  • Phenylketonuria

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health


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