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Updated: Oct 3, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Chaperone Therapy in Fabry Disease
Frank Weidemann1, Ana Jovanovic2, Ken Herrmann3
1Department of Medicine I, Klinikum Vest GmbH, Knappschaftskrankenhaus Recklinghausen, Academic Teaching Hospital, Ruhr-University Bochum, 45657 Recklinghausen, Germany.
Abstract:
Fabry disease is an X-linked lysosomal multisystem storage disorder induced by a mutation in the alpha-galactosidase A (GLA) gene. Reduced activity or deficiency of alpha-galactosidase A (AGAL) leads to escalating storage of intracellular globotriaosylceramide (GL-3) in numerous organs, including the kidneys, heart and nerve system. The established treatment for 20 years is intravenous enzyme replacement therapy. Lately, oral chaperone therapy was introduced and is a therapeutic alternative in patients with amenable mutations. Early starting of therapy is essential for long-term improvement. This review describes chaperone therapy in Fabry disease.
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