Children born to mothers with phenylketonuria (PKU) who have high blood phenylalanine
during pregnancy are at risk of developing intellectual disability, microcephaly, congenital …

More women with phenylketonuria are becoming pregnant and need appropriate
management to avoid the effects of raised phenylalanine on the fetus: facial dysmorphism …

High maternal phenylalanine values carry an indisputably high risk to the fetus. Detailed
information on the maternal phenylalanine concentrations required to ensure normal …

Strict metabolic control with dietary treatment during pregnancy is essential for women with
phenylketonuria (PKU), as elevated levels of phenylalanine (Phe) are toxic to the …

Nationwide neonatal screening for phenylketonuria (PKU) has created an unexpected
problem as these women are reaching childbearing age. Surveys have revealed that …

To prevent maternal phenylketonuria (PKU) syndrome low phenylalanine concentrations
(target range, 120–360 μmol/L) during pregnancy are recommended for women with PKU …

An increasing number of women with inherited metabolic disorders survive, conceive and
have children. In order to safeguard the health of the mother and the developing embryo …

ContextUntreated maternal phenylketonuria (PKU) increases risk for developmental
problems in offspring. The extent to which this risk is reduced by maternal dietary therapy at …

In inherited metabolic diseases other than phenylketonuria (PKU), the mother is at risk of
metabolic decompensation during periods of catabolism, but the infant does not appear to …

Currently, since many women with phenylketonuria (PKU: McKusick 261600) are of
childbearing age, maternal PKU represents a new clinical challenge. Many studies have …