A new Capillary Zone Electrophoresis method for the screening of Congenital Disorders of Glycosylation (CDG)

The Congenital Disorders of Glycosylation (CDG) are an expanding group of metabolic diseases with a broad clinical presentation. We sought to validate a new Capillary Zone Electrophoresis (CZE) method (Sebia Capillarys ™ CDT) to screen for CDG. We analyzed 119 serum samples from children of varying ages and of both sexes to establish a reference range of transferrin glycoforms including CDT (Carbohydrate Deficient Transferrin). We then studied serums from 8 known CDG patients and compared the CZE results to the Isoelectric Focusing (IEF) profiles. We also analyzed serums after extraction from spotted Guthrie cards. The mean (SD) percentages of transferrin glycoforms are 18.5 (4.4), 78.5 (4.2), 2.5 (1.3) and 0.6 (0.3) for penta-, tetra-, trisialotransferrin and CDT, respectively. There is no statistically significant difference between the different age groups analyzed (0–5, 6–11, 12–15, 16–18, and >18 y) or between sexes. We observed a good correlation between the CZE and IEF profiles with both fresh serum and serum extracted from Guthrie cards. The Sebia Capillarys ™ CDT system is a simple and reliable method to screen for CDG in pediatric and adult patients with an unexplained clinical syndrome, particularly when the nervous system is involved.