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Via practica 9/2007
MATERNAL PHENYLKETONURIA
Maternal phenylketonuria (PKU) during pregnancy leads to a risk of spontaneous abortion or embryopathy. The severity of embryopathies depends on the level of maternal phenylalaninemia and may associate with malformations including cardiomyopathy, facial dysmorphism, microcephaly, intrauterine growth retardation and mental retardation. This embryopathy can be prevented by a strict low-phenylalanine diet started before conception and maintained throughout pregnancy. Girls with PKU must be fully informed about risks and control the phenylalanine level before conception.
Keywords: maternal phenylketonuria, phenylalanine, pregnancy.
