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Fast fingerprinting by MALDI-TOF mass spectrometry of urinary sediment glycosphingolipids in Fabry disease.

Abstract
Fabry disease (FD) is an X-linked inborn error of glycosphingolipid (GSL) metabolism, caused by a deficiency of the lysosomal alpha-galactosidase A, which results in high levels in lysosomes and biological fluids of globotriaosylceramide (Gb3) and digalactosylceramide (Ga2), also known as galabiosylceramide. We report here a detailed study of the molecular species of GSLs in urinary samples obtained from hemizygous and heterozygous patients by use of matrix-assisted laser desorption ionisation and tandem mass spectrometry (MALDI-MS-MS). Twenty-two and fifteen molecular species were identified in the globotriaosylceramide and digalabiosylceramide series, respectively. The major sphingoid base was sphingosine (d18:1), and dihydrosphingosine (C18:0) and sphingadienine (d18:2) were also present. The molecular profiles obtained by MALDI-TOF-MS enabled us to show significant differences between GSLs composition for young, adult or atypic hemizygote and heterozygote patients. Thus, MALDI-TOF-MS and MS-MS proved a powerful tool for screening a population of patients with clinical signs suggestive of FD by direct and rapid GSL fingerprinting and identification, and for study of the biological processes occurring in glycosphingolipid accumulation.
AuthorsDavid Touboul, Sandrine Roy, Dominique P Germain, Arlette Baillet, Françoise Brion, Patrice Prognon, Pierre Chaminade, Olivier Laprévote
JournalAnalytical and bioanalytical chemistry (Anal Bioanal Chem) Vol. 382 Issue 5 Pg. 1209-16 (Jul 2005) ISSN: 1618-2642 [Print] Germany
PMID15959771 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
Chemical References
  • Glycosphingolipids
  • Trihexosylceramides
  • digalactosyl ceramide
  • globotriaosylceramide
Topics
  • Adult
  • Child
  • Fabry Disease (genetics, urine)
  • Female
  • Glycosphingolipids (urine)
  • Heterozygote
  • Humans
  • Male
  • Sex Factors
  • Spectrometry, Mass, Matrix-Assisted Laser Desorption-Ionization
  • Tandem Mass Spectrometry
  • Time Factors
  • Trihexosylceramides (urine)

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