PMID: 2107877Apr 2, 1990Paper

Urinary neutral glycosphingolipid analysis of patients with Fabry's disease; rapid isocratic elution from high-performance liquid chromatography as per-o-benzoyl derivatives

Biochimica Et Biophysica Acta
M OshimaM Masuzawa

Abstract

Neutral glycosphingolipids from urinary sediments of six patients with Fabry's disease and 11 members of the family of one propositus were analyzed using high-performance liquid chromatography. Per-o-benzoyl derivatives of GlcCer, LacCer, GbOse3Cer and GbOse4Cer were clearly resolved by a solvent mixture of hexane/dioxane/isopropanol (75:25:1, v/v) on a normal-phase silica column. Using our isocratic solvent system, the analysis was completed within 15 min. The smallest amount of glycolipid that could be detected by HPLC was 50 pmol and a linear response was shown at 230 nm up to 400 pmol. The calculated peak area of GbOse4Cer was higher than those of GlcCer, LacCer and GbOse3Cer. The molar ratios of GbOse3Cer to monohexosyl ceramide (CMH) in the urinary sediments were: Fabry hemizygotes, 36.33 +/- 25.54 (n = 6); heterozygotes, 0.94 +/- 0.50 (n = 4); and controls, 0.11 +/- 0.06 (n = 5). The molar ratio CDH/CMH was also higher in patients (8.42 +/- 6.23) than in controls (0.77 +/- 0.23). The female H was a rare example of a carrier with typical clinical manifestations. From the urinary sediment analysis, females E, G and J were suspected to be Fabry heterozygotes, although no clinical signs were observed at the time of examination.

References

Nov 1, 1985·Proceedings of the National Academy of Sciences of the United States of America·D H CalhounR J Desnick
Jun 1, 1987·Nature·K A WarehamE D Williams
Aug 1, 1972·Journal of Neurochemistry·T Miyatake, T Ariga
Mar 30, 2005·Anatomical Science International·Yoshihiro Morikawa

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Citations

Jan 15, 2015·Journal of the American Society for Mass Spectrometry·Michel Boutin, Christiane Auray-Blais
Jan 15, 1994·American Journal of Medical Genetics·M R Natowicz, B Bejjani
Mar 10, 2009·Clinica Chimica Acta; International Journal of Clinical Chemistry·Paula A RozenfeldCarlos A Fossati

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