Maternal phenylketonuria (PKU) is a major unresolved problem in PKU,
threatening to produce microcephaly, mental retardation, congenital
heart disease, dysmorphic facies, and low birth weight in many offspring
throughout the world. Phenylalanine restricted dietary therapy during
pregnancy may offer some degree of fetal protection, but the extent of
and conditions for this protection are not yet known. The Maternal PKU
Collaborative Study was developed in 1984 to address these questions.
The objectives of this study are to determine:
1) Does the phenylalanine restricted diet reduce the frequency of mental
retardation, spontaneous abortion, low birth weight, congenital
malformations, neurological and behavioral impairment reported in
pregnancies of hyperphenylalanine (HPA) mothers who were on unrestricted
phenylalanine intake during pregnancy?
2) Is pregnancy outcome in HPA women who restrict phenylalanine intake
during pregnancy comparable to that of non-HPA women?
3) Is pregnancy outcome in HPA women related to maternal phenylalanine
levels during pregnancy.
4) Is gestational age at the onset of intervention predictive of fetal
outcome?
5) Are there beneficial effects of starting diet prior to conception?
6) What are the levels of tyrosine and trace elements during pregnancy
and what are the effects on pregnancy outcome of supplementation if
levels are found to be reduced?
NCRR Clarification: research is on miscarriage
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