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Barbara Trezzi

As seen in: MDPI
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Articles

Identification of Four New Mutations in the GLA Gene Associated with Anderson-Fabry Disease

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By Monia Anania, Federico Pieruzzi, Irene Giacalone, Barbara Trezzi
| MDPI
1. Introduction Anderson–Fabry disease (or Fabry disease, OMIM #301500) is a progressive, hereditary, multisystemic lysosomal storage disorder characterized by functional deficiency of the enzyme α-galactosidase A (α-GAL A) [1]. This deficit determines an alteration in the metabolism of some glycosphingolipids, predominantly globotriaosylceramide (Gb3), which accumulates in the lysosomes of numerous cell types, especially in vascular endothelial cells [2].
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