Increased fucosylation and reduced branching of serum glycoprotein N-glycans in all known subtypes of congenital disorder of glycosylation I

Glycobiology. 2003 May;13(5):367-75. doi: 10.1093/glycob/cwg040. Epub 2003 Jan 22.

Abstract

The N-glycans present on the total mixture of serum glycoproteins (serum N-glycome) were analyzed in 24 subjects with congenital disorder of glycosylation type I (CDG-I) and 7 healthy, age-matched individuals. No new N-glycan structures were observed in the sera of CDG-I patients as compared with normal sera. However, we observed in all subtypes a significantly increased degree of core alpha-1,6-fucosylation of the biantennary glycans as compared to normal, as well as a significant decrease in the amount of triantennary glycans. These serum N-glycome changes appear to be a milder manifestation of some of the changes observed in adult liver cirrhosis patients, which is compatible with the reported steatosis and fibrosis in CDG-I patients. In the CDG-Ia subgroup, the extent of the serum N-glycome changes correlates with the aberration of the serum transferrin isoelectric focusing pattern, which measures the severity of the lack of entire N-glycan chains (primary consequence of CDG-I) in the liver and is the standard diagnostic test for this category of inherited diseases.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adult
  • Carbohydrate Metabolism, Inborn Errors / blood
  • Carbohydrate Metabolism, Inborn Errors / metabolism*
  • Fucose / chemistry
  • Fucose / metabolism*
  • Glycoproteins / blood
  • Glycoproteins / chemistry
  • Glycoproteins / metabolism*
  • Glycoside Hydrolases
  • Glycosylation
  • Humans
  • Isoelectric Focusing
  • Liver Cirrhosis / blood
  • Liver Cirrhosis / metabolism
  • Neuraminidase
  • Oligosaccharides / analysis
  • Phosphotransferases (Phosphomutases) / deficiency*
  • Polysaccharides / analysis
  • Polysaccharides / blood
  • Sequence Analysis, DNA
  • Transferrin / analysis
  • Transferrin / metabolism

Substances

  • Glycoproteins
  • Oligosaccharides
  • Polysaccharides
  • Transferrin
  • asialooligosaccharides
  • Fucose
  • Glycoside Hydrolases
  • Neuraminidase
  • Phosphotransferases (Phosphomutases)
  • phosphomannomutase