Maternal phenylketonuria (PKU) refers to fetal damage from PKU in the pregnant
woman. The progeny from such pregnancies are almost always microcéphalie and mentally
subnormal and have an increased frequency of congenital heart disease and low birth
weight. Treatment with a phenylalanine-restricted diet, if begun before conception, seems to
protect the fetus. The degree of protection is much less if dietary treatment is delayed until
the pregnancy is in progress. The origin of fetal damage in maternal PKU is not known. Due
to placental concentration of amino acids, the fetus is exposed to a higher concentration of
phenylalanine than that in the mother, but it is not certain that phenylalanine is the toxic
agent. Animal models made hyperphenylalaninémie by the administration of phenylalanine,
often accompanied by a phenylalanine hydroxylase inhibitor, do not reproduce the full
maternal PKU syndrome; but fetuses and newborns from these models have had reduced
growth of the body and brain, and offspring later may show evidence of impaired learning
ability.