BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
BACKGROUND: 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. METHODS: 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. RESULTS: 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. CONCLUSIONS: 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.
Authors: Bobby G Ng; Carla G Asteggiano; Martin Kircher; Kati J Buckingham; Kimiyo Raymond; Deborah A Nickerson; Jay Shendure; Michael J Bamshad; Matthias Ensslen; Hudson H Freeze Journal: Am J Med Genet A Date: 2017-08-29 Impact factor: 2.802
Authors: Swati Gupta; Somayyeh Fahiminiya; Tracy Wang; Laura Dempsey Nunez; David S Rosenblatt; William T Gibson; Brian Gilfix; John J M Bergeron; Loydie A Jerome-Majewska Journal: Cold Spring Harb Mol Case Stud Date: 2016-05
Authors: Karolina Mitusińska; Artur Góra; Anna Bogdańska; Agnieszka Rożdżyńska-Świątkowska; Anna Tylki-Szymańska; Aleksandra Jezela-Stanek Journal: Biomolecules Date: 2022-03-04