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Updated: Jul 16, 2026
10:16
In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Current management of Fabry disease]
Pierre Cochat1, Aurélia Liutkus, Laurence Dubourg
1Centre de référence des maladies rénales héréditaires, hôpital Edouard-Herriot, Lyon, France. pierre.cochat@chu-lyon.fr
Nephrologie & Therapeutique
|March 22, 2007
Summary
Fabry disease, a rare genetic disorder, causes organ damage due to GL-3 buildup. Enzyme replacement therapy with agalsidase improves organ function and quality of life.
Area of Science:
- Genetics and rare diseases
- Lysosomal storage disorders
- Biochemistry and metabolism
Context:
- Fabry disease is a rare X-linked lysosomal storage disorder.
- Characterized by globotriaosylceramide (GL-3) deposition in endothelial cells.
- Early diagnosis is challenging due to atypical presentations.
Purpose:
- To summarize the current understanding of Fabry disease pathophysiology and treatment.
- To highlight the role of enzyme replacement therapy (ERT) in managing the disease.
- To discuss the limitations of current ERT and encourage exploration of alternative therapies.
Summary:
- Fabry disease leads to systemic complications including renal, ocular, cerebral, neurological, and cardiovascular involvement.
- Enzyme replacement therapy using recombinant alpha-galactosidase (agalsidase) offers a safe and effective approach.
- Agalsidase treatment promotes significant organ functional improvement and enhances quality of life by clearing GL-3 deposits.
Impact:
- ERT with agalsidase demonstrates significant improvements in kidney and heart function.
- The treatment improves patients' quality of life by addressing systemic manifestations.
- Further research into alternative therapeutic strategies is warranted due to the inconvenience of current biweekly intravenous administration.
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