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PEDIATRICS Vol. 107 No. 2 February 2001, pp. 427-428

AMERICAN ACADEMY OF PEDIATRICS:
Maternal Phenylketonuria

Committee on Genetics

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.

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The following policy statement is a revision:

Maternal Phenylketonuria

Pediatrics 122: 445-449. [Full Text]