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Updated: Aug 13, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
[Fabry disease--a provocation for pediatrics]
1Klinik für Allgemeine Pädiatrie, Heinrich-Heine-Universität Düsseldorf. hoffmann@med.uni-duesseldorf.de
Abstract:
Fabry disease is an inherited metabolic disease caused by the deficiency of the lysosomal enzyme alpha-Galactosidase A. In consequence, globotriaosylceramide (Gb3) accumulates in nearly all tissues and body fluids. Typically, the disease manifestation is in childhood with acroparaesthesia of burning character in hands and feet. Angioceratoma, cornea verticillata and proteinuria may be found as well at an early stage of the disease. With ongoing age vital organs are increasingly affected. Major causes for death are cerebrovascular events, myocardial infarction, and progressive renal insufficiency. Enzyme replacement therapy (ERT) offers an efficient treatment of Fabry disease. On the basis of newly diagnosed patients we describe the clinical picture, diagnosis and principles of ERT.
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