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Biomarkers for Fabry Disease

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Fabry Disease

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Abstract

Biomarkers are surrogate markers of disease activity that may be helpful in the confirmation of a diagnosis and in clinical management. Biomarkers are usually chemical entities, ranging from simple metabolites to complex proteins and polynucleotides that can be measured in bodily fluids such as plasma or urine specimens. Metabolite and protein biomarkers have already been identified for the related lysosomal storage disorder Gaucher disease, and are presently used to support clinical decision making. The current status of biomarker identification and application for Fabry disease is described in this chapter. Attention is paid to metabolites (globotriaosylceramide and globotriaosylsphingosine) as well as the ongoing efforts to identify protein biomarkers. Present limitations in biomarkers are described and perspectives for further research are presented.

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  1. Department of Medical Biochemistry, Academic Medical Center, University of Amsterdam, Amsterdam, The Netherlands

    Johannes M.F.G. Aerts

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  1. Johannes M.F.G. Aerts
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Correspondence to Johannes M.F.G. Aerts .

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  1. , Shaare Zedek Medical Center, Gaucher Clinic, Bayit Street 12, Jerusalem, 91034, Israel

    Deborah Elstein

  2. , Shaare Zedek Medical Center, Genetics Unit, Bayit Street 12, Jerusalem, 91031, Israel

    Gheona Altarescu

  3. University of Mainz, Children's Hospital, Langenbeckstrasse 1, Mainz, 55131, Germany

    Michael Beck

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Aerts, J.M. (2010). Biomarkers for Fabry Disease. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_7

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