The impact of mass spectrometry in the diagnosis of congenital disorders of glycosylation

J Inherit Metab Dis. 2011 Aug;34(4):891-9. doi: 10.1007/s10545-011-9306-8. Epub 2011 Mar 8.


Contribution of mass spectrometry (MS) in the diagnosis and characterization of congenital disorders of glycosylation (CDG) has long been known. CDG type I diseases are characterized by the under-occupancy of protein N-glycosylation sites. Electrospray (ESI) MS and matrix assisted laser desorption ionization (MALDI) MS are effective for underglycosylation analyses of intact serum Transferrin (Tf) in CDG-I patients by mass determination of individual component glycoforms. Thus, high-throughput methods developed to speed-up analytical times found increasing application in clinical testing for CDG detection. ESI MS recognizable glycoform profiles of serum Tf have been reported in CDG-I different from PMM2-CDG and in individual CDG-II defects. MALDI MS analysis of acidic and neutral N-linked glycans released from total plasma or targeted glycoproteins, is the mainstream tool to explore abnormal oligosaccharide structure and changes in the relative amount of individual oligosaccharides in CDG-II patients. Here we briefly review state-of-the-art and updates of MS-based applications for the diagnosis of CDG with special emphasis to detectable glycosylation profiles reported in different CDG types.

Publication types

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

MeSH terms

  • Body Fluids / chemistry
  • Body Fluids / metabolism
  • Congenital Disorders of Glycosylation / classification
  • Congenital Disorders of Glycosylation / diagnosis*
  • Congenital Disorders of Glycosylation / genetics
  • Congenital Disorders of Glycosylation / metabolism
  • Glycosylation
  • Humans
  • Mass Spectrometry / methods*
  • Metabolome
  • Models, Biological
  • Mutation / physiology
  • Protein Processing, Post-Translational / genetics