PKU, maternal

PKU, maternal The disease phenylketonuria (PKU) in a pregnant woman whose high blood levels of phenylalanine are dangerous to a developing fetus. High phe can damage a baby before birth. If the mother’s PKU is not controlled, the fetus (which may not have PKU) is at high risk for congenital heart disease, growth retardation, microcephaly, and mental retardation. See also phenylalanine hydroxylase deficiency; PKU.