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Related Experiment Videos

Heterozygote detection in Fabry disease utilizing multiple enzyme activities.

K J Sheth, T A Good, J V Murphy

    American Journal of Medical Genetics
    |January 1, 1981
    PubMed
    Summary

    Identifying female carriers of Fabry disease is challenging. Using enzyme activity ratios in plasma significantly improves carrier detection rates to 91%, aiding in early diagnosis and management.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Enzymology

    Background:

    • Fabry disease is an X-linked disorder, making carrier identification difficult.
    • Standard alpha-galactosidase activity assays detect only 60-70% of female carriers.

    Purpose of the Study:

    • To improve the identification rate of female carriers of Fabry disease.
    • To evaluate the utility of enzyme activity ratios for carrier detection.

    Main Methods:

    • Plasma and leukocyte enzyme activities were measured in suspected and obligate Fabry disease carriers.
    • Alpha-galactosidase activity was assessed relative to beta-galactosidase, beta-hexosaminidase, and alpha-fucosidase.
    • Multiple enzyme activity ratios were analyzed for carrier identification.

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    Main Results:

    • Plasma enzyme activity ratios correctly identified 91% of heterozygotes.
    • Leukocyte alpha/beta-galactosidase ratio identified one additional carrier compared to alpha-galactosidase alone.
    • Combined biochemical tests offer a more accurate carrier detection method.

    Conclusions:

    • Multiple enzyme activity ratios in plasma are highly effective for identifying Fabry disease carriers.
    • This approach significantly enhances diagnostic accuracy for heterozygotes.
    • Recommended for routine carrier screening in at-risk families.