Pathologic substrate of gastropathy in Anderson-Fabry disease

Alessandro Di Toro, Nupoor Narula, Lorenzo Giuliani, Monica Concardi, Alexandra Smirnova, Valentina Favalli, Mario Urtis, Costanza Alvisi, Elena Antoniazzi, Eloisa Arbustini

Research output: Contribution to journalLetterpeer-review


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.

Original languageEnglish
Number of pages1
JournalOrphanet Journal of Rare Diseases
Issue number1
Publication statusPublished - Jun 22 2020


  • Anderson Fabry disease (AFD)
  • Esophagogastroduodenoscopy (EGD)
  • Gastropathy
  • Globotriaosylceramide (GB3)

ASJC Scopus subject areas

  • Genetics(clinical)
  • Pharmacology (medical)


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