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Molecular Diagnostics and Genetics |
1
Centre Hospitalier Régional Universitaire de Lille, Laboratoire de Biochimie et de Biologie Moléculaire, Hôpital Calmette, Bd du Professeur Jules Leclercq, 59047 Lille Cedex, France.
2
Laboratoire de Chimie Biologique, CNRS Unité Mixte
111, Université des Sciences et Technologies de Lille, 59655
Villeneuve d'Asq Cedex, France.
a Author for correspondence. Fax 33 3 20 53 85 62; e-mail klein{at}lille.inserm.fr.
A new method of urinary oligosaccharides identification by matrix-assisted laser desorption time-of-flight mass spectrometry is presented. The method involves three steps: coupling of the urinary oligosaccharides with 8-aminonaphthalene-1,3,6-trisulfonic acid; fast purification over a porous graphite carbon extraction column; and mass spectrometric analysis. Identification of urinary oligosaccharides is based on the patterns and values of the pseudomolecular ions observed. We report here the patterns in urines from patients with Pompe disease, alpha and beta mannosidoses, galacto-sialidosis, and GM1 gangliosidosis. The protocols described here allowed facile and sensitive identification of the pathognomonic oligosacchariduria present in lysosomal diseases and can be extended to any pathological oligosacchariduria.
The following articles in journals at HighWire Press have cited this article:
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C. Flahaut, J.C. Michalski, T. Danel, M.H. Humbert, and A. Klein The effects of ethanol on the glycosylation of human transferrin Glycobiology, March 1, 2003; 13(3): 191 - 198. [Abstract] [Full Text] [PDF] |
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M. Horiuchi, T. Fukushige, T. Saheki, and T. Kanzaki Improved Matrix-assisted Laser Desorption/Ionization Time-of-Flight Mass Spectrometric Method for Identification of Amino Acid O-Glycosides in Patients with {alpha}-N-Acetylgalactosaminidase Deficiency Clin. Chem., October 1, 2002; 48(10): 1798 - 1799. [Full Text] [PDF] |
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S. T. Hepbildikler, R. Sandhoff, M. Kolzer, R. L. Proia, and K. Sandhoff Physiological Substrates for Human Lysosomal beta -Hexosaminidase S J. Biol. Chem., January 18, 2002; 277(4): 2562 - 2572. [Abstract] [Full Text] [PDF] |
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