2015
DOI: 10.1016/j.cca.2015.06.003
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Variations in the GLA gene correlate with globotriaosylceramide and globotriaosylsphingosine analog levels in urine and plasma

Abstract: Recent data have shown that lyso-Gb3, the deacylated derivative of globotriaosylceramide (Gb3), is possibly involved in the pathogenesis of Fabry disease (FD) and might be a clinically useful biomarker of its metabolic load. To test this hypothesis, we assayed Gb3 and lyso-Gb3 and related analogs in plasma and/or urine samples of 12 clinically well-characterized subjects carrying several different GLA variant alleles associated with a wide range of residual α-galactosidase A activities. Urinary Gb3 was measure… Show more

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Cited by 26 publications
(29 citation statements)
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“…[7][8][9] As an alternative, plasma ly-soGb3 concentrations are a valuable tool in the classification of FD. 4,24 In line with earlier findings, 4 lysoGb3 concentrations can, indeed, be used to differentiate between phenotypes in men with FD. Concentrations of .45 nmol/L are strongly indicative for a classical FD phenotype in men with FD.…”
Section: Discussionsupporting
confidence: 72%
“…[7][8][9] As an alternative, plasma ly-soGb3 concentrations are a valuable tool in the classification of FD. 4,24 In line with earlier findings, 4 lysoGb3 concentrations can, indeed, be used to differentiate between phenotypes in men with FD. Concentrations of .45 nmol/L are strongly indicative for a classical FD phenotype in men with FD.…”
Section: Discussionsupporting
confidence: 72%
“…Of the four males who underwent ordinary gene analysis, three presented the p.E66Q class 2 mutation—a nonpathogenic, functional polymorphism that was found at an unexpectedly high frequency in the GLA analysis of Japanese patients selected through the abnormal α-Gal A activity in the FD screening. 14,27 One male with normal plasma lyso-Gb3 levels exhibited a gene promoter variant (c.−10C>T) in the 5'-untranslated region of exon 1 that was associated with decreased α-Gal A expression; 28 this is a nonpathogenic class 2 mutation (Supplementary Table S6 online). 28 Of the six females, four declined gene analysis and the two who underwent ordinary gene analysis presented the c.−10C>T mutation (Supplementary Table S6).…”
Section: Resultsmentioning
confidence: 99%
“…Urinary GL-3 levels may also be suitable for the diagnosis of Fabry nephropathy and monitoring the effect of ERT in patients with Fabry disease [22][23][24]. Further research is needed to explore the use of urinary GL-3 as an additional therapeutic goal for Fabry nephropathy and no goal has been included at this time.…”
Section: Urinary Gl-3mentioning
confidence: 99%