Mass Spectrometry in the Detection and Diagnosis of Congenital Disorders of Glycosylation
- 3 February 2007
- journal article
- Published by SAGE Publications in European Journal of Mass Spectrometry
- Vol. 13 (1), 101-103
- https://doi.org/10.1255/ejms.836
Abstract
Mass spectrometry (MS) of large molecules such as proteins and oligosaccharides has not been employed in clinical practices, while that of small metabolites is widely used for the screening and diagnosis of various congenital diseases. Congenital disorders of glycosylation (CDG) is a newly recognized group of diseases derived from defects in the biosynthetic pathway of protein glycosylation and the patients are never decisively diagnosed unless the glycoprotein molecules are analyzed. We have constructed a diagnostic system where MS of glycoproteins and glycopeptides identifies abnormalities in their glycan moieties. This program is anticipated to reveal the prevalence of CDG and to demonstrate the essential role of MS in the emerging field of medicine, disease glycomics and glycoproteomics.Keywords
This publication has 9 references indexed in Scilit:
- Comparison of the methods for profiling glycoprotein glycans—HUPO Human Disease Glycomics/Proteome Initiative multi-institutional studyGlycobiology, 2007
- Mass spectrometry for congenital disorders of glycosylation, CDGJournal of Chromatography B, 2006
- Differential analysis of site-specific glycans on plasma and cellular fibronectins: application of a hydrophilic affinity method for glycopeptide enrichmentGlycobiology, 2005
- Hydrophilic Affinity Isolation and MALDI Multiple-Stage Tandem Mass Spectrometry of Glycopeptides for GlycoproteomicsAnalytical Chemistry, 2004
- Detailed glycan analysis of serum glycoproteins of patients with congenital disorders of glycosylation indicates the specific defective glycan processing step and provides an insight into pathogenesisGlycobiology, 2003
- Mass spectrometric analysis of glycans in elucidating the pathogenesis of CDG type IIxJournal of Inherited Metabolic Disease, 2003
- Diagnosis of carbohydrate-deficient glycoprotein syndrome by matrix-assisted laser desorption time-of-flight mass spectrometryJournal of Mass Spectrometry, 1994
- Structure of serum transferrin in carbohydrate-deficient glycoprotein syndromeBiochemical and Biophysical Research Communications, 1992
- Structural analysis of human hemoglobin variants by mass spectrometryInternational Journal of Mass Spectrometry and Ion Physics, 1983