Skip to content
Licensed Unlicensed Requires Authentication Published by De Gruyter July 1, 2020

Agreement of dried blood spot lyso-Gb3 concentrations obtained from different laboratories in patients with Fabry disease

Constantin Gatterer ORCID logo, Martina Gaggl ORCID logo, Gerald Mundigler ORCID logo, Paulus Rommer ORCID logo, Senta Graf ORCID logo and Gere Sunder-Plassmann ORCID logo

Corresponding author: Gere Sunder-Plassmann, MD, Department of Medicine III, Division of Nephrology and Dialysis, Medical University of Vienna, Währinger Gürtel 18-20, Vienna, 1090, Austria, Phone: +43 1 40400 45110, Fax: +43 1 40400 47270. E-mail:

Funding source: Sanofi Genzyme Austria

Funding source: Takeda (Shire) Austria

  1. Research funding: Dried blood spot cards were provided by Sanofi and Shire/Takeda.

  2. Author contributions: All authors have accepted responsibility for the entire content of this manuscript and approved its submission.

  3. Competing interests: Authors state no conflict of interest.

  4. Informed consent: Informed consent was obtained from all individuals included in this study.

  5. Ethical approval: We included patients with GLA variants, who were enrolled in the KarMA study, which is a longitudinal study examining the cardiac changes over time in patients with Fabry disease (unique IRB identifier: 813/2010).

References

1. Aerts, JM, Groener, JE, Kuiper, S, Donker-Koopman, WE, Strijland, A, Ottenhoff, R, et al. Elevated globotriaosylsphingosine is a hallmark of Fabry disease. Proc Natl Acad Sci U S A 2008;105:2812–7. https://doi.org/10.1073/pnas.0712309105.Search in Google Scholar

2. Olivera, S, Iñiguez, C, García-Fernández, L, Sierra, JL, Camón, AM, Menao, S, et al. Usefulness of lyso-globotriaosylsphingosine in dried blood spots in the differential diagnosis between multiple sclerosis and Anderson–Fabry’s disease. Mult Scler Relat Disord 2020;38. https://doi.org/10.1016/j.msard.2019.101466.Search in Google Scholar

3. Polo, G, Burlina, AP, Ranieri, E, Colucci, F, Rubert, L, Pascarella, A, et al. Plasma and dried blood spot lysosphingolipids for the diagnosis of different sphingolipidoses: a comparative study. Clin Chem Lab Med 2019;57:1863–74. https://doi.org/10.1515/cclm-2018-1301.Search in Google Scholar

4. Nowak, A, Mechtler, T, Kasper, DC, Desnick, RJ. Correlation of Lyso-Gb3 levels in dried blood spots and sera from patients with classic and Later-Onset Fabry disease. Mol Genet Metab 2017;121:320–4. https://doi.org/10.1016/j.ymgme.2017.06.006.Search in Google Scholar

5. Nowak, A, Mechtler, TP, Desnick, RJ, Kasper, DC. Plasma LysoGb3: a useful biomarker for the diagnosis and treatment of Fabry disease heterozygotes. Mol Genet Metab 2017;120:57–61. https://doi.org/10.1016/j.ymgme.2016.10.006.Search in Google Scholar

Received: 2020-04-25
Accepted: 2020-05-22
Published Online: 2020-07-01
Published in Print: 2020-10-25

© 2020 Walter de Gruyter GmbH, Berlin/Boston

Scroll Up Arrow