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2009-10-07Zeitschriftenartikel DOI: 10.1515/CCLM.2010.048
Determination of globotriaosylceramide in plasma and urine by mass spectrometry
dc.contributor.authorKrüger, Ralf
dc.contributor.authorBruns, Kai
dc.contributor.authorGrünhage, Silke
dc.contributor.authorRossmann, Heidi
dc.contributor.authorReinke, Jörg
dc.contributor.authorBeck, Michael
dc.contributor.authorLackner, Karl J.
dc.date.accessioned2017-06-17T01:36:57Z
dc.date.available2017-06-17T01:36:57Z
dc.date.created2010-07-01
dc.date.issued2009-10-07
dc.identifier.issn1437-4331
dc.identifier.urihttp://edoc.hu-berlin.de/18452/10254
dc.description.abstractBackground: Fabry disease is an X-chromosomally inherited lysosomal storage disorder leading to accumulation of glycosphingolipids, mainly globotriaosylceramide (ceramide-trihexoside, Gb3). Concentrations of Gb3 in plasma and urine have been used to diagnose Fabry disease and to monitor enzyme replacement therapy with recombinant α-galactosidase. Methods: Gb3 was purified from plasma or urine by combined liquid extraction/protein precipitation and solid-phase extraction, and was detected by flow-injection analysis electrospray mass spectrometry (MS) using multi-reaction-monitoring. Calibration was performed via standard addition using C17-Gb3 as internal standard. The most abundant isoforms were monitored for calculation of total Gb3. Results: A MS-based assay for quantification of Gb3 in plasma and urine was established and validated. Intra- and inter-assay coefficient of variation (CV) of the method were ≤12%. However, at low concentrations the CV was 16%. The linear range covers roughly two orders of magnitude, down to 0.54 mg/L in plasma and 0.07 mg/L in urine. Careful adjustment of tuning parameters was necessary to obtain identical isoform intensities and quantitative results on different mass spectrometers. Gb3 concentrations in healthy controls were <4 mg/L in EDTA-plasma and <10 μg/mmol creatinine in urine. Significantly increased Gb3 concentrations were found in plasma and urine from male and female patients with Fabry disease. Conclusions: An improved MS protocol for Gb3 quantification has been developed, validated, and shown to be suitable for diagnosis and monitoring of Fabry patients. Clin Chem Lab Med 2010;48:189–98.eng
dc.language.isound
dc.publisherKooperation de Gruyter
dc.titleDetermination of globotriaosylceramide in plasma and urine by mass spectrometry
dc.typearticle
dc.identifier.urnurn:nbn:de:kobv:11-100114542
dc.identifier.doi10.1515/CCLM.2010.048
dc.identifier.doihttp://dx.doi.org/10.18452/9602
local.edoc.container-titleClinical Chemistry and Laboratory Medicine
local.edoc.type-nameZeitschriftenartikel
local.edoc.container-typeperiodical
local.edoc.container-type-nameZeitschrift
local.edoc.container-publisher-namede Gruyter
local.edoc.container-volume48
local.edoc.container-issue2
local.edoc.container-year2010
local.edoc.container-firstpage189
local.edoc.container-lastpage198
dc.description.versionPeer Reviewed

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