Related Experiment Video
Updated: Aug 11, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Enzyme replacement therapy in Fabry's disease]
L Alvarez1, C del Pozo, M Trigueros
1Secci6n de Nefrología, Hospital de Alcoy, Alicante.
Abstract:
We report a 56-year-old man with history of chronic renal failure, who was diagnosed to have Fabry's disease after performing a percutaneous kidney biopsy. The diagnosis was confirmed by the deficient level of activity of alpha-galactosidase A and by the identification of the mutation. A enzime replacement therapy with alpha-galactosidase A was administered. After 18 months of treatment, a second kidney biopsy was performed showing renal deposits of globotriaosylceramide (we did not evaluate the percentage of histologic clearance of the deposits). Six months after the end of the therapy, a reduction in the impairment of renal function is observed, and the classic manifestations of the disease are absent.
More Related Videos
Related Concept Videos
Gene Therapy
Lysosomal Hydrolases
Myasthenia Gravis: Overview and Treatment
These antibodies interfere with the function of the nicotinic receptors in three ways: by binding to the receptor and disrupting acetylcholine binding; by causing cross-linking of receptors which leads...
Extracorporeal Removal of Drugs: Continuous Renal Replacement Therapy
Cardiomyopathy V: Interprofessional Care
Continuous Renal Replacement Therapy

