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Related Experiment Videos

Prenatal mucopolysaccharidosis II (Hunter): a pathogenetic study.

U N Wiesmann, M A Spycher, C Meier

    Pediatric Research
    |May 1, 1980
    PubMed
    Summary

    Prenatal diagnosis of Mucopolysaccharidosis II (M. Hunter syndrome) was achieved using amniotic cell analysis. This rare genetic disorder involves abnormal mucopolysaccharide metabolism, confirmed by enzyme deficiency in the fetus.

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    Area of Science:

    • Medical Genetics
    • Biochemistry
    • Developmental Biology

    Background:

    • Mucopolysaccharidosis II (M. Hunter syndrome) is a rare X-linked genetic disorder.
    • It results from deficient iduronate-2-sulfatase activity, leading to mucopolysaccharide accumulation.
    • Early diagnosis is crucial for potential management and family planning.

    Purpose of the Study:

    • To describe the successful prenatal diagnosis of Mucopolysaccharidosis II.
    • To detail the diagnostic methods employed in a high-risk pregnancy.
    • To characterize the biochemical and cellular findings in an affected fetus.

    Main Methods:

    • Prenatal diagnosis via cultured amniotic cells analyzing 35SO4 incorporation and degradation.
    • Measurement of dermatan sulfate and heparin sulfate in amniotic fluid.

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  • Enzyme activity assays (iduronate-2-sulfatase, beta-galactosidase) in fetal tissues.
  • Electron microscopy of fetal cells (fibroblasts, brain cells, spinal ganglia).

    • Main Results:

    • Abnormal 35SO4 metabolism confirmed Mucopolysaccharidosis II in cultured amniotic cells.
    • Elevated dermatan sulfate and heparin sulfate levels were detected in amniotic fluid.
    • Deficiency of iduronate-2-sulfatase activity was found in fetal organs.
    • Electron microscopy revealed lysosomal storage and nascent 'Zebra bodies' in fetal neurons.

    Conclusions:

    • Prenatal diagnosis of Mucopolysaccharidosis II is feasible using biochemical and cellular analyses.
    • Fetal tissue examination confirmed the diagnosis and provided insights into cellular pathology.
    • This case highlights the importance of early detection in families with a history of M. Hunter syndrome.