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Maternal hyperphenylalaninemia fetal effects.

A Lipson, B Beuhler, J Bartley

    The Journal of Pediatrics
    |February 1, 1984
    PubMed
    Summary
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    Maternal hyperphenylalaninemia, a metabolic disorder, can cause birth defects in children. High blood phenylalanine levels in mothers are linked to developmental issues and malformations in their offspring.

    Area of Science:

    • Biochemistry
    • Teratology
    • Genetics

    Background:

    • Untreated maternal hyperphenylalaninemia is a known risk factor for fetal development.
    • Understanding the teratogenic effects of phenylalanine is crucial for prenatal care.

    Purpose of the Study:

    • To investigate the pattern of malformations in offspring exposed to maternal hyperphenylalaninemia.
    • To assess the teratogenic potential of maternal hyperphenylalaninemia and its correlation with phenylalanine levels.

    Main Methods:

    • Observational study of 34 children born to 11 mothers with untreated hyperphenylalaninemia.
    • Clinical evaluation of malformations, growth, and neurological function in offspring.
    • Correlation analysis between maternal blood phenylalanine concentrations and observed teratogenic effects.

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    Main Results:

    • Offspring exhibited significant prenatal and postnatal growth retardation.
    • Microcephaly and central nervous system dysfunction were prevalent.
    • A higher incidence of malformations and a characteristic facial appearance were noted in the children.
    • Teratogenic effects showed variability linked to maternal phenylalanine blood concentrations.

    Conclusions:

    • Maternal hyperphenylalaninemia is a significant teratogen, posing risks to fetal development.
    • The severity of developmental abnormalities is associated with maternal phenylalanine levels.
    • This highlights the importance of managing hyperphenylalaninemia during pregnancy to prevent adverse outcomes.