Thiol/disulfide homeostasis as a new oxidative stress marker in patients with Fabry disease

This is the first study to show both dynamic thiol-disulfide balance and oxidative stress levels in patients with Fabry disease (FD). This prospective study consists of 30 FD patients and 30 healthy controls. Thiol and disulfide values of the study groups were evaluated using a new, cost-effective and fully automatic colorimetric method. A total of 60 subjects were included in the study. A statistically significant difference was found between the patient and control groups for native and total thiol levels (p < 0.001). In addition, disulfide levels were significantly higher in FD patients compared with the control group (p < 0.003). Native thiol levels showed significantly negative correlation with lysosomal globotriaosylceramide, total oxidant status (TOS), and oxidative stress index (OSI) levels. In addition, a positive correlation was found between disulfide/natural thiol and disulfide/total thiol ratios and TOS, OSI, and blood urea nitrogen. We found total antioxidant status levels were lower in the patient group compared to the control group, while TOS and OSI levels were higher and were statistically significant. This study highlights for the first time a novel, cost-effective and fully automated measurement of thiol-disulfide levels in patients with FD. Determination of thiol levels can make important contributions to understand the etiopathogenesis and follow-up of the disease in FD patients.

Automated summary

This study is the first to examine the thiol-disulfide balance and oxidative stress levels in patients with Fabry disease. The results show significant differences in thiol and disulfide levels between the patient and control groups, and these levels are correlated with lysosomal globotriaosylceramide, total oxidant status, and blood urea nitrogen. Additionally, the study found lower total antioxidant status and higher oxidative stress levels in Fabry disease patients.