Importance of diet in maternal phenylketonuria

Diet has long been recognized as the primary treatment modality for individuals with phenylketonuria (PKU) during infancy and childhood. Recent findings from the Maternal PKU Collaborative Study clearly indicate that dietary restriction of phenylalanine is also necessary to prevent the adverse effects of an elevated plasma phenylalanine concentration during pregnancy, which include microcephaly, physical anomalies, and mental retardation.