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Updated: Jun 7, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Update on the treatment of Fabry's disease: pathophysiological concepts]
1Sección de Enfermedades Neuromusculares, Departamento de Neurología, Hospital General de Agudos Juan A. Fernández, Cerviño, Buenos Aires, Argentina. jpolitei@hotmail.com
Introduction:
Fabry's disease is a consequence of the deficiency of lysosomal alpha-galactosidase A, which gives rise to excessive depositing of glycosphingolipids in endothelial cells, smooth muscle cells in vessels, podocytes, neurons, etc. The symptoms begin in childhood, with neuropathic pain, and progress towards kidney and heart failure, as well as cerebro-vascular accidents from the third decade of life onwards.
Development:
This review presents the changes in the pathophysiological concepts that have been acquired in the nine years since enzyme replacement therapy started to be employed. The earlier enzyme replacement is started, the more effective it is, which thereby calls for a review of the criteria for its use in patients. Furthermore, the need for concomitant treatments is also evaluated based on the pathophysiology of the disease.
Conclusions:
The joint use of enzyme replacement therapy, antiproteinuric drugs, statins and acetylsalicylic acid must be evaluated as initial treatment in all patients with Fabry's disease.
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