Pathologic substrate of gastropathy in Anderson-Fabry disease

Pathologic substrate of gastropathy in Anderson-Fabry disease

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 th...

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Bibliographic Details
Main Authors: Alessandro Di Toro, Nupoor Narula, Lorenzo Giuliani, Monica Concardi, Alexandra Smirnova, Valentina Favalli, Mario Urtis, Costanza Alvisi, Elena Antoniazzi, Eloisa Arbustini
Format: Article
Language:English
Published: BMC 2020-06-01
Series:Orphanet Journal of Rare Diseases
Subjects:
Anderson Fabry disease (AFD)
Gastropathy
Esophagogastroduodenoscopy (EGD)
Globotriaosylceramide (GB3)
Online Access:http://link.springer.com/article/10.1186/s13023-020-01436-2
Description
Summary: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.
ISSN:1750-1172

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