Screening for abnormal glycosylation in a cohort of adult liver disease patients

摘要: Congenital disorders of glycosylation (CDG) are a rapidly expanding group rare genetic defects in glycosylation. In novel CDG subgroup vacuolar-ATPase (V-ATPase) assembly defects, various degrees hepatic injury have been described, including end-stage liver disease. However, the diagnostic workflow can be complex as disease per se may associated with abnormal Therefore, we collected serum samples patients wide range pathology to study performance and yield two screening methods. Our aim was identify patterns that could help differentiate between primary secondary To this end, analyzed 1042 adult patients. This cohort consisted 567 transplant candidates 475 chronic for by transferrin isoelectric focusing (tIEF), followed in-depth analysis quadruple time-of-flight mass spectrometry (QTOF-MS). Screening tIEF resulted identification 247 (26%) samples. QTOF-MS 110 those did not reveal abnormalities comparable seen V-ATPase factor defects. presented isolated sialylation deficiency. Fucosylation significantly increased compared healthy controls conclusion, significant percentage results. pattern indicative defect. Advanced glycoanalytical techniques assist dissection