Update Author:

AAP Committee on Genetics

Elevated maternal phenylalanine concentrations during pregnancy result in growth retardation, microcephaly, significant developmental delays, and birth defects in the offspring of women with poorly controlled phenylketonuria during pregnancy. The best outcomes occur when strict control of maternal phenylalanine concentration is achieved before conception and continued throughout pregnancy. The revised AAP policy statement “Maternal Phenylketonuria,” released in August 2008, includes brief descriptions of novel treatments for phenylketonuria.

The entire AAP policy statement can be accessed at http://aappolicy.aappublications.org/cgi/content/full/pediatrics;122/2/445. This policy statement is a revision of the policy statement “Maternal Phenylketonuria” posted in February 2001.