Please use this identifier to cite or link to this item: http://hdl.handle.net/2440/7126
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Type: Journal article
Title: Determination of oligosaccharides in Pompe disease by electrospray ionization tandem mass spectrometry
Author: Rozaklis, T.
Ramsay, S.
Whitfield, P.
Ranieri, E.
Hopwood, J.
Meikle, P.
Citation: Clinical Chemistry, 2002; 48(1):131-139
Publisher: Amer Assoc Clinical Chemistry
Issue Date: 2002
ISSN: 0009-9147
1530-8561
Statement of
Responsibility: 
Rozaklis, Tina ; Ramsay, Steven L. ; Whitfield, Phillip D. ; Ranieri, Enzo ; Hopwood, John J. ; Meikle, Peter J.
Abstract: BACKGROUND:The development of therapies for lysosomal storage disorders has created a need for biochemical markers to monitor the efficacy of therapy and methods to quantify these markers in biologic samples. In Pompe disease, the concentration of a tetrasaccharide, consisting of four glucose residues, is reputedly increased in urine and plasma, but faster and more sensitive methods are required for the analysis of this, and other oligosaccharides, from biologic fluids. METHODS:We optimized the derivatization of storage oligosaccharides with 1-phenyl-3-methyl-5-pyrazolone for the measurement, by electrospray ionization tandem mass spectrometry, of oligosaccharide concentrations in urine (n = 6), plasma (n = 11), and dried-blood spots (n = 17) from Pompe-affected individuals. Age-matched control samples of urine (n = 10), plasma (n = 28), and blood spots (n = 369) were also analyzed. RESULTS:The mean tetrasaccharide concentration was increased in urine from infantile-onset (0.69-12 mmol/mol of creatinine) and adult-onset (0.22-3.0 mmol/mol of creatinine) Pompe individuals compared with age-matched controls. In plasma samples, an increased tetrasaccharide concentration was observed in some infantile patients (up to 22 micromol/L) compared with age-matched controls (mean, 2.2 micromol/L). The method developed was sensitive enough to determine oligosaccharide concentrations in a single 3-mm blood spot, but no differences were observed between blood spots from control and Pompe-affected individuals. CONCLUSIONS:Measurements of oligosaccharide concentrations in urine by this new method have potential application for the diagnosis and monitoring of patients with Pompe disease. Plasma analysis may have limited application for infantile patients, but analysis of blood spots does not discriminate between controls and affected individuals.
Keywords: Mass Spectrometry -- Analysis; Oligosaccharides -- Analysis; Glucose -- Analysis; Gene Therapy -- Analysis
Rights: © 2002 The American Association for Clinical Chemistry
RMID: 0020020283
DOI: 10.1093/clinchem/48.1.131
Appears in Collections:Paediatrics publications

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