Research Information System
Klinische Padiatrie, vol.237, no.4, pp.209-213, 2025 (SCI-Expanded)
Background Gaucher disease is caused by mutations in the GBA1 gene, which encodes the β-glucocerebrosidase enzyme. The deficiency of this enzyme result in glucosylceramide and glucosylsphingosine accumulation, within lysosomes and resulted triggering inflammation and accumulating substrates affect multiple organ systems, causing progressive cellular damage. Evidence has shown that the accumulation of glucosylceramide in macrophages is associated with inflammatory processes, reactive oxygen species production and an imbalance between the pro-oxidants and the antioxidant reserve, resulting in oxidative stress and inflammation. Aims The aim of this study was to compare the oxidative stress status between patients with Gaucher disease and healthy controls. Study design Case-control study Materials and Methods This study included 10 patients with Gaucher disease aged between 2–40 years, and 30 healthy controls. Total antioxidant capacity and total oxidant capacity parameters between these groups were compared. Results Although the total antioxidant capacity value of the case group was higher, it was not significant. The total oxidant capacity and oxidative stress index values were significantly higher in the patient group (p < 0.05). Conclusion Our study showed that oxidative stress increased in patients with Gaucher disease. The results of our study may guide the application of antioxidant treatment in Gaucher disease patients as a supportive treatment.