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- Title
Pathologic substrate of gastropathy in Anderson-Fabry disease.
- Authors
Di Toro, Alessandro; Narula, Nupoor; Giuliani, Lorenzo; Concardi, Monica; Smirnova, Alexandra; Favalli, Valentina; Urtis, Mario; Alvisi, Costanza; Antoniazzi, Elena; Arbustini, Eloisa
- Abstract
In both classic and late-onset AFD, mutations of the GLA gene cause deficient activity of the alpha-galactosidase enzyme resulting in intracellular accumulation of the undigested substrate. Gastrointestinal symptoms (GI) are common but non-specific and imputed to the AFD, irrespective of the demonstration of substrate accumulation in GI cells. We demonstrate substrate accumulation in gastric epithelial, vascular, and nerve cells of patients with classic AFD and, vice versa, absence of accumulation in late-onset AFD and controls.
- Subjects
ANGIOKERATOMA corporis diffusum; NEURONS; ENDOENZYMES; GENETIC mutation; GASTROINTESTINAL system; DIGESTIVE system endoscopic surgery
- Publication
Orphanet Journal of Rare Diseases, 2020, Vol 15, Issue 1, p1
- ISSN
1750-1172
- Publication type
letter
- DOI
10.1186/s13023-020-01436-2