Outcome at Age 4 Years in Offspring of Women With Maternal Phenylketonuria

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Abstract
Phenylketonuria (PKU) in women increases the risk to their offspring for adverse outcomes. In the offspring of untreated women with maternal PKU, there is a 92% risk for mental retardation, 73% risk for microcephaly, 40% risk for low birth weight, and 12% risk for congenital heart disease.1 The precise mechanism of fetal damage in maternal PKU is still unknown, although it is clear that the abnormal intrauterine environment harms the fetus.2-4 Treatment with a phenylalanine-restricted diet begun prior to pregnancy reduces these risks.5 However, the extent to which risks are reduced in late or inadequately treated pregnancies has not been clearly established.6,7