Journal of Inherited Metabolic Disease

, 28:707

Clinical and biochemical presentation of siblings with COG-7 deficiency, a lethal multiple O- and N-glycosylation disorder

  • L. J. M. Spaapen
  • J. A. Bakker
  • S. B. van der Meer
  • H. J. Sijstermans
  • R. A. Steet
  • R. A. Wevers
  • J. Jaeken
Article

DOI: 10.1007/s10545-005-0015-z

Cite this article as:
Spaapen, L.J.M., Bakker, J.A., van der Meer, S.B. et al. J Inherit Metab Dis (2005) 28: 707. doi:10.1007/s10545-005-0015-z

Summary

Congenital disorders of glycosylation (CDG) represent a group of inherited multiorgan diseases caused by defects in the biosynthesis of glycoproteins. We report on two dysmorphic siblings with severe liver disease who died at the age of a few weeks. Increased activities of lysosomal enzymes in plasma were found, though total sialic acid in plasma was strongly decreased. Isoelectric focusing of serum sialotransferrins showed a type 2-like CDG pattern. Some of the known CDG subtypes were excluded. O-Glycosylation was investigated by isoelectric focusing of apolipoprotein C-III, which showed increased fractions of hyposialylated isoforms. In a consecutive study a defect in the conserved oligomeric Golgi complex was established at the level of subunit COG-7, leading to disruption of multiple glycosylation functions of the Golgi. This report on patients with a new variant of CDG, due to a multiple Golgi defect, emphasizes in addition to sialotransferrins the importance of analysis of a serum O-linked glycoprotein, e.g. apolipoprotein C-III, in unclassified CDG-X cases.

Copyright information

© SSIEM and Springer 2005

Authors and Affiliations

  • L. J. M. Spaapen
    • 1
    • 6
  • J. A. Bakker
    • 1
  • S. B. van der Meer
    • 2
  • H. J. Sijstermans
    • 2
  • R. A. Steet
    • 3
  • R. A. Wevers
    • 4
  • J. Jaeken
    • 5
  1. 1.Department of Biochemical GeneticsAcademic Hospital MaastrichtHeerlenThe Netherlands
  2. 2.Department of PediatricsAtrium Medisch CentrumHeerlenThe Netherlands
  3. 3.Department of Internal MedicineWashington University School of MedicineSaint LouisUSA
  4. 4.Laboratory of Pediatrics and NeurologyUniversity Medical CenterNijmegenThe Netherlands
  5. 5.Center for Metabolic DiseasesUniversitair Ziekenhuis GasthuisbergLeuvenBelgium
  6. 6.Department of Biochemical GeneticsAcademic Hospital MaastrichtAZ MaastrichtThe Netherlands