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Updated: Jun 18, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Biochemical basis of Fabry disease with emphasis on mitochondrial function and protein trafficking
1Department of Pediatrics, Hannover Medical School, Hannover, Germany das.anibh@mh-hannover.de
Abstract:
Fabry disease, also known as Anderson-Fabry disease, is an X-linked lysosomal storage disorder. The clinical picture is highly variable and usually milder in females. It is a multisystemic disease involving many organs. Fabry disease is due to a deficiency of alpha-galactosidase A caused by different usually "private" mutations. Enzyme replacement therapy (ERT) has been established, other therapeutic options are at an experimental stage. Classically, mechanical deposition of storage material in blood vessels was believed to lead to decreased blood supply with consecutive organ dysfunction. Recently, however, many secondary biochemical processes have been discussed to be involved in the pathogenesis of Fabry disease. For example, compromised energy metabolism has been found both in vitro and in vivo, altered lipid composition of membranes can lead to abnormalities in trafficking and sorting of rafts-associated proteins. We discuss the role of these secondary phenomena in the pathogenesis of Fabry disease.
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