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Updated: Jun 26, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Division-related function and organ-related therapy in Fabry's disease. An interdisciplinary challenge]
Frank Weidemann1, Claudia Sommer, Thomas Duning
1Medizinische Klinik und Poliklinik I, Universitätsklinikum Würzburg, Würzburg, Germany. weidemann_f@medizin.uni-wuerzburg.de
Abstract:
Fabry's disease is a rare X-linked lysosomal storage disorder leading to an accumulation of globotriaosylceramides in the lysosomes of all tissues. As the accumulation occurs in all organs, different medical faculties are involved in the diagnostics and therapy of Fabry's disease. With this review the three main faculties (cardiology, nephrology and neurology) as well as the adjacent faculties (ophthalmology and dermatology) want to discuss the division-related function and also to suggest an organ-related additional therapy besides enzyme replacement therapy.
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