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Updated: Aug 14, 2026

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
Published on: December 20, 2017
Anderson-Fabry disease: a protean clinical behavior and a chance diagnosis
Luisa Amico1, Giuseppe Visconti, Antonio Amato
1Operative Unit of Nephrology and Dialysis, V. Cervello Hospital, Palermo - Italy.
Abstract:
Anderson-Fabry disease is a rare inborn X-linked glycosphingolipid storage disorder in which the deficient activity of the enzyme alfa-galactosidase A (alfa-gal A) leads to the progressive tissular accumulation of lipidic molecules which, in turn, cause a protean pattern of multi-organ disfunction. Enzyme replacement therapy has recently become available and has proved to be effective in controlling the disorder. We present and discuss the case of a family with this disease, with special attention to the variability of clinical features and the difficulty of a correct diagnosis.
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