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

J Inherit Metab Dis. 2005;28(5):707-14. doi: 10.1007/s10545-005-0015-z.

Abstract

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.

Publication types

  • Case Reports

MeSH terms

  • Apolipoprotein C-III
  • Apolipoproteins C / metabolism
  • Carbohydrate Metabolism, Inborn Errors / blood
  • Carbohydrate Metabolism, Inborn Errors / diagnosis*
  • Carbohydrate Metabolism, Inborn Errors / metabolism
  • Congenital Disorders of Glycosylation / blood
  • Congenital Disorders of Glycosylation / diagnosis*
  • Congenital Disorders of Glycosylation / metabolism
  • Family Health
  • Female
  • Fibroblasts / enzymology
  • Glycoproteins / biosynthesis
  • Glycoproteins / blood
  • Glycoproteins / chemistry
  • Glycosylation
  • Golgi Apparatus / metabolism
  • Humans
  • Isoelectric Focusing
  • Leukocytes / enzymology
  • Liver / metabolism
  • Lysosomes / metabolism
  • Male
  • N-Acetylneuraminic Acid / chemistry
  • Protein Isoforms
  • Siblings
  • Transferrin / biosynthesis

Substances

  • Apolipoprotein C-III
  • Apolipoproteins C
  • Glycoproteins
  • Protein Isoforms
  • Transferrin
  • N-Acetylneuraminic Acid