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Maternal phenylketonuria
Journal of Inherited Metabolic Disease
|January 1, 1986
Summary
Untreated phenylketonuria (PKU) in pregnant women poses risks. High blood phenylalanine levels can lead to congenital birth defects in offspring. Further research is needed for effective treatment programs.
Area of Science:
- Maternal-fetal medicine
- Metabolic disorders
- Developmental biology
Background:
- Untreated phenylketonuria (PKU) in pregnant women is linked to adverse fetal outcomes.
- Elevated blood phenylalanine levels (hyperphenylalaninemia) during pregnancy are associated with congenital birth defects.
- Specific risks include microcephaly, cardiac defects, and mental retardation in offspring.