Profiling oligosaccharidurias by electrospray tandem mass spectrometry: Quantifying reducing oligosaccharides

Steven L. Ramsay, Peter J. Meikle, John J. Hopwood, Peter R. Clements

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42 Citations (Scopus)

Abstract

A method to semiquantify urinary oligosaccharides from patients suffering from oligosaccharidurias is presented. l-Phenyl-3-methyl-5-pyrazolone has been used to derivatize urinary oligosaccharides prior to analysis by electrospray ionization-tandem mass spectrometry (ESI-MS/MS). Disease-specific oligosaccharides were identified for several oligosaccharidurias, including GM1 gangliosidosis, GM2 gangliosidosis, sialic acid storage disease, sialidase/neuraminidase deficiency, galactosialidosis, I-cell disease, fucosidosis, Pompe and Gaucher diseases, and α-mannosidosis. The oligosaccharides were referenced against the internal standard, methyl lactose, to produce ratios for comparison with control samples. Elevations in specific urinary oligosaccharides were indicative of lysosomal disease and the defective catabolic enzyme. This method has been adapted to enable assay of large sample numbers and could readily be extended to other oligosaccharidurias and to monitor oligosaccharide levels in patients receiving treatment. It also has immediate potential for incorporation into a newborn screening program.

Original languageEnglish
Pages (from-to)30-46
Number of pages17
JournalAnalytical Biochemistry
Volume345
Issue number1
DOIs
Publication statusPublished - 1 Oct 2005
Externally publishedYes

Keywords

  • 1-Phenyl-3-methyl-5-pyrazolone
  • Electrospray ionization-tandem mass spectrometry
  • G gangliosidosis
  • I-cell
  • Lysosomal storage disorder
  • Oligosacchariduria
  • Pompe
  • Sandhoff
  • Sialidosis
  • Tay-Sachs
  • α-Mannosidosis

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