Untreated PKU causes mental retardation. Some psychological deficits including perceptual motor dysfunction and attention and academic difficulties have been found. Low phenylalanine diets during pregnancy may lead to poor fetal growth. Citations in support of individual recommendations are identified in the guideline text. This report was externally peer reviewed.
All Canadian provinces have universal screening programs and U.S. states have varying regulations.
The 1989 United States Preventive Services Task Force recommended that all newborn infants be screened before discharge. For infants discharged before 24 hours, repeat the test at 7 to 14 days. Premature infants and other treated infants should be checked at 7 to 14 days. The AAP recommended repeat screening of infants if they are tested before 24 hours of age. The AAP and the American College of Obstetricians and Gynecologists do not recommend maternal screening.