Related Experiment Video

Updated: Apr 16, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease

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Fabry disease--a primer for cardiologists

Adriana Mursă, Carmen Ginghină, Ruxandra Jurcut

    Romanian Journal of Internal Medicine = Revue Roumaine De Medecine Interne
    |March 3, 2015
    PubMed

    Insights

    Fabry disease, a genetic disorder, affects multiple organs, especially the heart. Early screening and enzyme replacement therapy are crucial for managing cardiac symptoms and preventing irreversible fibrosis.

    Area of Science:

    • Genetics and rare diseases
    • Cardiology
    • Metabolic disorders

    Background:

    • Fabry disease is an X-linked lysosomal storage disorder resulting from alpha-galactosidase A deficiency.
    • It is a systemic condition impacting kidneys, heart, and brain, with cardiac involvement often manifesting as left ventricular hypertrophy.

    Purpose of the Study:

    • To review the systemic features of Fabry disease.
    • To emphasize the importance of early cardiac involvement screening and timely intervention.

    Main Methods:

    • Literature review focusing on Fabry disease.
    • Analysis of clinical presentations, diagnostic considerations, and treatment strategies.

    Main Results:

    • Cardiac involvement is a significant manifestation requiring cardiologist attention.
    • Early screening is vital as treatment benefits diminish with established cardiac fibrosis.

    Conclusions:

    • Screening for Fabry disease is beneficial in specific populations like ESRD patients or young stroke victims.
    • Enzyme replacement therapy can reverse abnormalities and should be initiated for symptomatic patients.

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