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Fabry's disease: alpha-galactosidase deficiency.

J A Kint

    Science (New York, N.Y.)
    |February 27, 1970
    PubMed
    Summary

    Fabry disease, a genetic condition, is characterized by a deficiency in alpha-galactosidase enzyme activity in leukocytes. This enzyme deficiency is also observed in female carriers, though to a lesser extent.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Enzymology

    Background:

    • Fabry disease is an X-linked genetic disorder.
    • The disease results from a deficiency of the enzyme alpha-galactosidase.
    • This deficiency leads to the accumulation of specific substances in various tissues.

    Purpose of the Study:

    • To investigate the alpha-galactosidase activity in leukocytes of male patients with Fabry disease.
    • To determine the alpha-galactosidase activity levels in female carriers of Fabry disease.
    • To assess the activity of other related enzymes in affected individuals.

    Main Methods:

    • Leukocyte isolation from blood samples.
    • Enzyme activity assays for alpha-galactosidase.
    • Enzyme activity assays for beta-galactosidase, beta-acetylgalactosaminidase, and beta-acetylglucosaminidase.

    Main Results:

    • Male patients with Fabry disease showed deficient alpha-galactosidase activity in their leukocytes.
    • Female carriers exhibited 15 to 40 percent of normal alpha-galactosidase activity in their leukocytes.
    • Activities of beta-galactosidase, beta-acetylgalactosaminidase, and beta-acetylglucosaminidase were normal in affected individuals.

    Conclusions:

    • Leukocyte alpha-galactosidase activity is a reliable indicator for diagnosing Fabry disease in males.
    • Reduced leukocyte alpha-galactosidase activity can also identify female carriers.
    • Other tested beta-galactosidase enzymes are not affected in Fabry disease, highlighting the specificity of alpha-galactosidase deficiency.

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