Automated chip-nanoelectrospray mass spectrometry for glycourinomics in Schindler disease type I

Carbohydr Res. 2014 Oct 29:398:90-100. doi: 10.1016/j.carres.2014.08.014. Epub 2014 Sep 6.


In this study an integrative mass spectrometry (MS) approach based on fully automated chip-nanoelectrospray quadrupole time-of-flight was optimized and applied for the discovery and structural characterization of O-glycopeptides in a fraction from the urine of a patient diagnosed with Schindler disease type I. A mixture of O-glycopeptides extracted and purified from an age matched healthy subject served as the control. 49 glycoforms were discovered in the investigated urine fraction from Schindler disease versus only 14 in control urine. Structures with relevant biological significance, previously not described, such as O-fucosylated tetrasaccharides and chains up to pentadecamers O-linked to serine, threonine, or threonine-proline were identified in the pathological urine and characterized by tandem MS (MS/MS). A number of 29 species discovered here, most of which with long chain glycans, were not previously reported as associated to this condition. All glycopeptides were detected in only 1 min analysis time, with a sample consumption situated in the femtomole range.

Keywords: Chip-based nanoelectrospray; Lysosomal storage diseases; O-Glycosylated amino acids and peptides; Quadrupole time-of-flight mass spectrometry; Schindler disease type I.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Automation
  • Carbohydrate Sequence
  • Child
  • Glycopeptides / chemistry
  • Glycopeptides / urine*
  • Humans
  • Lysosomal Storage Diseases / urine*
  • Molecular Sequence Data
  • Nanotechnology / methods
  • Neuroaxonal Dystrophies / urine*
  • Spectrometry, Mass, Electrospray Ionization / methods*
  • alpha-N-Acetylgalactosaminidase / deficiency*
  • alpha-N-Acetylgalactosaminidase / urine


  • Glycopeptides
  • alpha-N-Acetylgalactosaminidase

Supplementary concepts

  • Schindler Disease, Type I