Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects

Suzan Wopereis, Stephanie Grünewald, Karin M L C Huijben, Eva Morava-Kozicz, Rosella Mollicone, Baziel G M Van Engelen, Dirk J. Lefeber, Ron A. Wevers

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Abstract

Background: Apolipoprotein C-III (apoC-III) isoelectric focusing (IEF) can be used to detect abnormalities in the biosynthesis of core 1 mucin-type O-glycans. Methods: We studied plasma samples from 55 patients with various primary defects in N- and/or O-glycosylation, 21 patients with secondary N-glycosylation defects, and 6 patients with possible glycosylation abnormalities. Furthermore, we analyzed 500 plasma samples that were sent to our laboratory for selective screening for inborn errors of metabolism. Results: Plasma samples from patients with congenital disorders of glycosylation (CDG) types -IIe and -IIf showed a hypoglycosylated apoC-III isoform profile, as did plasma samples from 75% of the patients with an unspecified CDG type II. Hyposialylated O-glycan profiles were also seen in plasma from 2 patients with hemolytic-uremic syndrome. In the 500 plasma samples from the selective screening, 3 patients were identified with a possible isolated defect in the biosynthesis of core 1 mucin-type O-glycans. Conclusions: To our knowledge this is the first study in which use of a plasma marker protein has identified patients in whom only O-glycan biosynthesis might be affected. The primary defect(s) remain as yet unknown. Plasma apoC-III IEF is complementary to transferrin isofocusing. In conjunction both tests identify biosynthesis defects in N-glycan and mucin-type core 1 O-glycan biosynthesis. The apoC-III IEF assay is likely to help metabolic laboratories to identify and unravel further subtypes of inborn errors of glycan biosynthesis.

Original languageEnglish (US)
Pages (from-to)180-187
Number of pages8
JournalClinical Chemistry
Volume53
Issue number2
DOIs
StatePublished - Feb 1 2007
Externally publishedYes

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ASJC Scopus subject areas

  • Clinical Biochemistry

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Wopereis, S., Grünewald, S., Huijben, K. M. L. C., Morava-Kozicz, E., Mollicone, R., Van Engelen, B. G. M., Lefeber, D. J., & Wevers, R. A. (2007). Transferrin and apolipoprotein C-III isofocusing are complementary in the diagnosis of N- and O-glycan biosynthesis defects. Clinical Chemistry, 53(2), 180-187. https://doi.org/10.1373/clinchem.2006.073940