A new capillary zone electrophoresis method for the screening of congenital disorders of glycosylation (CDG).
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.
Parente
Fabienne
F
Department of Medical Genetics, MUHC-Montreal Children's Hospital, Montreal, Quebec, Canada.
Ah Mew
Nicholas
N
Jaeken
Jaak
J
Gilfix
Brian M
BM
D000328:Adult; D002239:Carbohydrate Metabolism, Inborn Errors / Q000175:diagnosis*; D002648:Child; D019075:Electrophoresis, Capillary / Q000379:methods*; D005260:Female; D006031:Glycosylation; D006801:Humans; D007525:Isoelectric Focusing; D008297:Male