Akademik Veri Yönetim Sistemi
SSIEM Annual Symposium 2023, Yerushalayim, İsrail, 29 Ağustos - 01 Eylül 2023, ss.745
BACKGROUND: Congenital disorders of glycosylation (CDG) are genetic diseases caused by defective
glycosylation of glycoproteins and glycolipids. Oxidative stress is caused by an imbalance between the
production of reactive oxygen species (ROS) and the ability of a biological system to readily detoxify the
reactive intermediates. We aimed to demonstrate the cellular oxidative damage in CDG patients by
measuring oxidative stress biomarkers.
MATERIAL/METHOD: We assessed the serum levels of 19 CDG patients and 14 healthy controls for
reactive oxygen species (ROS), malondialdehyde (MDA), total sulfhydryl content (SH), advanced oxidation
protein product (AOPP), advanced glycation end product (AGE) and ferric reducing antioxidant power
(FRAP).
RESULTS: The median ROS levels were 104.1-106.3 (79.3-147.7) and 126.8-138.2 (69.4-262.2) in controls
and in patients respectively. There was a significant difference between two groups (p, 0.039). Median AGE
levels were 170.6 (145.5-356) in controls and 269.8-273.6 (150.1-456.9) in CDGs (p, 0.002). Total SH levels
median was 223.4-228.3 (196.4-287.2) in the controls and 272.5-282.3 (206.2-657.9) in patients. Patients`
total SH levels were higher than that of the control group (p, 0.17). Mean FRAP values are 318.9∓90.1 in
controls and 386.0∓143.7 in CDGs. In comparison to the control group, FRAP levels of CDGs were
noticeably higher. Median MDA values were 3.3-3.4 (2.4-7.8) in controls and 2.7 (1.3-9.7) in CDGs. Median
AOPP levels of control group were 101.2 (32.3-283) and 96.9-100.2 (34.7-570.5) in patients. A difference
between the groups MDA and AOPP was not observed.
CONCLUSION: Most of the proteins and lipids in the body need to be glycosylated and CDGs are
characterized by multisystem involvement. In this study, we have demonstrated cellular damage in CDGs
and suggest that support of antioxidant drugs to the treatment protocol would be beneficial.