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Related Experiment Videos

[Heterozygous Fabry's disease. Case report with electron microscopic studies].

C Luderschmidt, H H Wolff

    Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete
    |July 1, 1980
    PubMed
    Summary

    Fabry disease, a sphingolipid metabolism disorder, involves alpha-galactosidase deficiency. Electron microscopy aids in diagnosing heterozygous females, crucial for genetic counseling.

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    Area of Science:

    • Biochemistry
    • Genetics
    • Cell Biology

    Background:

    • Fabry disease is an inherited sphingolipid metabolism disorder caused by alpha-galactosidase deficiency.
    • Males typically exhibit the full spectrum of symptoms due to hemizygosity.
    • Heterozygous females may present asymptomatically with normal enzyme activity.

    Observation:

    • A case report detailing the diagnosis of a female carrier of Fabry disease.
    • Diagnosis was established through electron microscopy revealing characteristic cellular lipid inclusions.
    • Inclusions were observed in endothelial, perithelial, smooth muscle, and nerve sheath cells.

    Findings:

    • Electron microscopy provides a valuable diagnostic tool for identifying Fabry disease in challenging cases.
    • Characteristic cellular lipid inclusions are key ultrastructural markers.

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  • Confirms the utility of electron microscopy in diagnosing asymptomatic or minimally symptomatic female carriers.

    • Implications:

    • Early diagnosis in female carriers is vital for effective genetic counseling.
    • Highlights the importance of considering electron microscopy for diagnosing Fabry disease in females.
    • Facilitates timely intervention and management strategies for affected families.