High‐Risk Screening of Fabry Disease: Analysis of Fifteen Urinary Methylated and Non‐Methylated Gb 3 Isoforms Using Tandem Mass Spectrometry

2016 ◽  
Vol 91 (1) ◽  
Author(s):  
Mona Abaoui ◽  
Michel Boutin ◽  
Pamela Lavoie ◽  
Christiane Auray‐Blais
Keyword(s):  
Mass Spectrometry ◽  
High Risk ◽  
Tandem Mass Spectrometry ◽  
Fabry Disease ◽  
Tandem Mass ◽  
Risk Screening ◽  
Disease Analysis ◽  
High Risk Screening

Urinary biomarker investigation in children with Fabry disease using tandem mass spectrometry

2015 ◽  
Vol 438 ◽  
pp. 195-204 ◽  
Author(s):  
Christiane Auray-Blais ◽  
Catherine-Marie Blais ◽  
Uma Ramaswami ◽  
Michel Boutin ◽  
Dominique P. Germain ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Fabry Disease ◽  
Tandem Mass ◽  
Urinary Biomarker

7. An efficient high-risk screening protocol for Fabry disease

2009 ◽  
Vol 96 (2) ◽  
pp. S13 ◽  
Author(s):  
Christiane Auray-Blais ◽  
David S. Millington ◽  
Sarah P. Young ◽  
Joe T.R. Clarke ◽  
Schiffmann Raphael
Keyword(s):  
High Risk ◽  
Fabry Disease ◽  
Risk Screening ◽  
Screening Protocol ◽  
High Risk Screening

Measurement of urinary CDH and CTH by tandem mass spectrometry in patients hemizygous and heterozygous for Fabry disease

2005 ◽  
Vol 28 (1) ◽  
pp. 35-48 ◽  
Author(s):  
K. Mills ◽  
P. Morris ◽  
P. Lee ◽  
A. Vellodi ◽  
S. Waldek ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Tandem Mass Spectrometry ◽  
Fabry Disease ◽  
Tandem Mass

scholarly journals Quantification of Globotriaosylsphingosine in Plasma and Urine of Fabry Patients by Stable Isotope Ultraperformance Liquid Chromatography–Tandem Mass Spectrometry

2013 ◽  
Vol 59 (3) ◽  
pp. 547-556 ◽  
Author(s):  
Henrik Gold ◽  
Mina Mirzaian ◽  
Nick Dekker ◽  
Maria Joao Ferraz ◽  
Johan Lugtenburg ◽  
...  
Keyword(s):  
Mass Spectrometry ◽  
Liquid Chromatography ◽  
Tandem Mass Spectrometry ◽  
Fabry Disease ◽  
Multiple Reaction Monitoring ◽  
Internal Standard ◽  
Response To Treatment ◽  
Tandem Mass ◽  
Healthy Controls ◽  
Enzyme Replacement

BACKGROUND Biochemical markers that accurately reflect the severity and progression of disease in patients with Fabry disease and their response to treatment are urgently needed. Globotriaosylsphingosine, also called lysoglobotriaosylceramide (lysoGb3), is a promising candidate biomarker. METHODS We synthesized lysoGb3 and isotope-labeled [5,6,7,8,9] 13C5-lysoGb3 (internal standard). After addition of the internal standard to 25 μL plasma or 400 μL urine from patients with Fabry disease and healthy controls, samples were extracted with organic solvents and the lysoGb3 concentration was quantified by UPLC-ESI-MS/MS (ultraperformance liquid chromatography–electrospray ionization–tandem mass spectrometry). Calibration curves were constructed with control plasma and urine supplemented with lysoGb3. In addition to lysoGb3, lyso-ene-Gb3 was quantified. Quantification was achieved by multiple reaction monitoring of the transitions m/z 786.4 > 282.3 [M+H]+ for lysoGb3, m/z 791.4 > 287.3 [M+H]+ for [5,6,7,8,9] 13C5-lysoGb3, and 784.4 > 280.3 [M+H]+ for lyso-ene-Gb3. RESULTS The mean (SD) plasma lysoGb3 concentration from 10 classically affected Fabry hemizygotes was 94.4 (25.8) pmol/mL (range 52.7–136.8 pmol/mL), from 10 classically affected Fabry heterozygotes 9.6 (5.8) pmol/mL (range 4.1–23.5 pmol/mL), and from 20 healthy controls 0.4 (0.1) pmol/mL (range 0.3–0.5 pmol/mL). Lyso-ene-Gb3 concentrations were 10%–25% of total lysoGb3. The urine concentration of lysoGb3 was 40–480 times lower than in corresponding plasma samples. Lyso-ene-Gb3 concentrations in urine were comparable or even higher than the corresponding lysoGb3 concentrations. CONCLUSIONS This assay for the quantification of lysoGb3 and lyso-ene-Gb3 in human plasma and urine samples will be an important tool in the diagnosis of Fabry disease and for monitoring the effect of enzyme replacement therapy in patients with Fabry disease.

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