Diagnosis of GM1 gangliosidosis based on detection of urinary oligosaccharides with high performance liquid chromatography

Clinica Chimica Acta; International Journal of Clinical Chemistry
T G WarnerJ S O'Brien

Abstract

An improved, rapid, and sensitive method for the biochemical diagnosis of GM1 gangliosidosis based on the detection and quantification of urinary galactosyl-oligosaccharides with high performance liquid chromatography was developed. The oligosaccharides, in 50-100 microliters of urine, were converted to radioactively labeled oligosaccharide-alditols with NaB3H4 and fractionated on commercial silica-amine bonded, high performance liquid chromatography columns. Delineation between infantile, juvenile, and adult onset subtypes of GM1 gangliosidosis was possible by analysis of the levels of the excreted oligosaccharides and their characteristic elution profile. Infantile and juvenile patients contain identical numbers of oligosaccharide fractions (13 resolved components) but can be distinguished by 3-10-fold lower levels of oligosaccharides in juvenile patients and, in some cases by a disproportionately lower concentration of high molecular weight compounds. Adult onset patients were distinguished by substantially lower concentrations of urinary oligosaccharides, 130-180-fold below those in infantile patients, and the apparent absence of high molecular weight oligosaccharides.

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Citations

Feb 22, 1989·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y Takahashi, T Orii
Feb 15, 1989·Clinica Chimica Acta; International Journal of Clinical Chemistry·Y Takahashi, T Orii
Apr 30, 1996·Clinica Chimica Acta; International Journal of Clinical Chemistry·M PiraudI Maire
Apr 4, 2017·Rapid Communications in Mass Spectrometry : RCM·Monique PiraudRoseline Froissart
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Mar 1, 1989·Ophthalmic Paediatrics and Genetics·A CabralJ F Moura-Nunes
May 17, 1996·American Journal of Medical Genetics·A J Ahern-RindellJ S O'Brien
Jun 20, 1986·Journal of Chromatography·K Kakehi, S Honda

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