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La malattia di Fabry
La malattia di Fabry è un raro disordine genetico da accumulo lisosomiale1, descritto per la prima volta da William Anderson e Johannes Fabry nel 1898. La causa è la carenza o la mancanza dell’enzima alfa-galattosidasi (alfa- Gal) A, che ha il compito di degradare le sostanze grasse, lipidi, nell’organismo, dovuta a una mutazione del gene situato nel braccio Xq22 del cromosoma X.2,3 Tutto ciò…
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