Oxidative stress biomarkers in Fabry disease: is there a room for them?

C. Simoncini, S. Torri, V. Montano, L. Chico, F. Gruosso, A. Tuttolomondo, A. Pinto, I. Simonetta, V. Cianci, A. Salviati, V. Vicenzi, G. Marchi, D. Girelli, D. Concolino, S. Sestito, M. Zedde, G. Siciliano, Michelangelo Mancuso

Research output: Contribution to journalArticlepeer-review


Background: Fabry disease (FD) is an X-linked lysosomal storage disorder, caused by deficient activity of the alpha-galactosidase A enzyme leading to progressive and multisystemic accumulation of globotriaosylceramide. Recent data point toward oxidative stress signalling which could play an important role in both pathophysiology and disease progression. Methods: We have examined oxidative stress biomarkers [Advanced Oxidation Protein Products (AOPP), Ferric Reducing Antioxidant Power (FRAP), thiolic groups] in blood samples from 60 patients and 77 healthy controls. Results: AOPP levels were higher in patients than in controls (p < 0.00001) and patients presented decreased levels of antioxidant defences (FRAP and thiols) with respect to controls (p < 0.00001). In a small group of eight treatment-naïve subjects with FD-related mutations, we found altered levels of oxidative stress parameters and incipient signs of organ damage despite normal lyso-Gb3 levels. Conclusions: Oxidative stress occurs in FD in both treated and naïve patients, highlighting the need of further research in oxidative stress-targeted therapies. Furthermore, we found that oxidative stress biomarkers may represent early markers of disease in treatment-naïve patients with a potential role in helping interpretation of FD-related mutations and time to treatment decision.

Original languageEnglish
Pages (from-to)3741-3752
Number of pages12
JournalJournal of Neurology
Issue number12
Publication statusPublished - Dec 2020


  • Biomarkers
  • Fabry disease
  • lysoGb3
  • Oxidative stress

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology


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