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


    • Department of Biochemical GeneticsAcademic Hospital Maastricht
    • Department of Biochemical GeneticsAcademic Hospital Maastricht
  • J. A. Bakker
    • Department of Biochemical GeneticsAcademic Hospital Maastricht
  • S. B. van der Meer
    • Department of PediatricsAtrium Medisch Centrum
  • H. J. Sijstermans
    • Department of PediatricsAtrium Medisch Centrum
  • R. A. Steet
    • Department of Internal MedicineWashington University School of Medicine
  • R. A. Wevers
    • Laboratory of Pediatrics and NeurologyUniversity Medical Center
  • J. Jaeken
    • Center for Metabolic DiseasesUniversitair Ziekenhuis Gasthuisberg

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


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.

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© SSIEM and Springer 2005