The National Institute of Child Health and Human Development and phenylketonuria

Abstract

The National Institute of Child Health and Human Development (NICHD) was established shortly after the Guthrie test for screening newborn infants for phenylketonuria (PKU) was introduced. The NICHD supported the study demonstrating the long-term efficacy of screening and a low-phenylalanine diet in preventing mental retardation. With the identification of the adverse impact on fetal development of high intrauterine phenylalanine exposure from a mother with PKU, the NICHD organized and supported the study reported here, demonstrating the protective effect of phenylalanine restriction of the mother's diet during pregnancy. The study provides clear guidance for the management of pregnancy in women with PKU.