Published online August 1, 2008
PEDIATRICS Vol. 122 No. 2 August 2008, pp. 445-449 (doi:10.1542/peds.2008-1485)
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Submit a response
Right arrow Alert me when this article is cited
Right arrow Alert me when eLetters are posted
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow E-mail this article to a friend
Right arrow Similar articles in this journal
Right arrow Alert me to new issues of the journal
Right arrow Add to My File Cabinet
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via CrossRef
Related Collections
Right arrow Nutrition & Metabolism

POLICY STATEMENT

Maternal Phenylketonuria

Committee on Genetics

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.

Key Words: phenylketonuria • maternal phenylketonuria • pregnancy • birth defect prevention

Abbreviations: PKU—phenylketonuria • Phe—phenylalanine • PAH—phenylalanine hydroxylase • BH4—tetrahydrobiopterin • PAL—phenylalanine ammonia lyase


The following policy statement has been revised:

Maternal Phenylketonuria

Pediatrics 107: 427-428. [Full Text]



This article has been cited by other articles:


Home page
 PediatricsHome page
R. Koch
Maternal Phenylketonuria and Tetrahydrobiopterin
Pediatrics, December 1, 2008; 122(6): 1367 - 1368.
[Full Text] [PDF]