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Clinical Chemistry 0: 200302156, 2003; 10.1373/clinchem.2003.021568
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Received on May 9, 2003
Accepted on October 13, 2003

Automation and Analytical Techniques

Diagnosis of Congenital Disorders of Glycosylation by Capillary Zone Electrophoresisof Serum Transferrin

Hubert A. Carchon 1*, Roland Chevigné 2, Jean-Bernard Falmagne 2, Jaak Jaeken 1

1 Department of Pediatrics, Center for Metabolic Disease, Katholieke Universiteit Leuven, B-3000 Leuven, Belgium
2 Analis SA, Rue Dewez 14, B-5000 Namur, Belgium

* To whom correspondence should be addressed. E-mail: hubert.carchon{at}med.kuleuven.ac.be.

Background: Congenital disorders of glycosylation (CDG) are usually diagnosed by isoelectric focusing (IEF) of serum transferrin (Tf). The aim of this study was to evaluate capillary zone electrophoresis (CZE) as a diagnostic alternative for IEF.

Methods: We performed 792 CZE analyses of Tf, using the CEofix$1-CDT (carbohydrate-deficient transferrin) assay. Peak identification was based on relative migration times (RMTs) to reduce migration variability.

Results: Tf profiles comprised three main groups (A-C). Groups A and B were characterized by one or two dominant tetrasialo-Tf peaks, whereas group C showed a widely variable Tf isoform composition. Group A was composed of four subgroups: a major group with a typical Tf profile (considered as reference group), two minor groups with decreased or moderately increased trisialo-Tf isoform, and a group showing the presence of unknown compounds with RMTs similar to mono- and disialo-Tf. However, these compounds were absent on IEF. Group C contained all profiles from patients with confirmed as well as putative CDG. From the reference group, 99% confidence intervals were calculated for the RMTs of the Tf isoforms, and percentiles representing the Tf isoform distribution were defined.

Conclusions: All patients with abnormal IEF and confirmed CDG were identified by CZE; thus, this method can be used as a diagnostic alternative to IEF in a manner suitable for automation. Because whole serum is analyzed, it should be kept in mind that CZE profiles can show substances other than Tf.© 2004 American Association for Clinical Chemistry


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