Maternal Phenylketonuria

Elevated maternal phenylalanine concentrations during pregnancy are teratogenic and may result in growth retardation, microcephaly, significant developmental delays, and birth defects in the offspring of women with poorly controlled phenylketonuria during pregnancy. Women of childbearing age with al...

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Bibliographic Details
Published in:Pediatrics (Evanston) 2008-08, Vol.122 (2), p.445-449
Main Authors: Saal, Howard M, Braddock, Stephen R, Bull, Marilyn J, Enns, Gregory, Gruen, Jeffrey R, Mendelsohn, Nancy J, Saul, Robert A
Format: Article
Language:English
Subjects:
Amino acids
Aminoacid disorders
Biological and medical sciences
Birth defects
Care and treatment
Complications and side effects
Diagnosis
Errors of metabolism
General aspects
Genetic disorders
Medical sciences
Medical treatment
Metabolic diseases
Pediatrics
Phenylketonuria
Practice guidelines (Medicine)
Pregnancy
Pregnancy complications
Pregnancy, Complications of
Prevention
Prevention and actions
Public health. Hygiene
Public health. Hygiene-occupational medicine
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Summary:Elevated maternal phenylalanine concentrations during pregnancy are teratogenic and may result in growth retardation, microcephaly, significant developmental delays, and birth defects in the offspring of women with poorly controlled phenylketonuria during pregnancy. Women of childbearing age with all forms of phenylketonuria, including mild variants such as mild hyperphenylalaninemia, should receive counseling concerning their risks for adverse fetal effects, optimally before conceiving. The best outcomes occur when strict control of maternal phenylalanine concentration is achieved before conception and continued throughout pregnancy. Included are brief descriptions of novel treatments for phenylketonuria.
ISSN:0031-4005
1098-4275
DOI:10.1542/peds.2008-1485