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Laboratory Diagnosis of Fabry Disease

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Fabry Disease

Abstract

The definitive diagnosis of Fabry disease in male patients is normally made by demonstrating a deficiency of α-galactosidase A in a blood sample, which may be white blood cells, plasma/serum or a dried blood spot. The diagnosis is confirmed by mutational analysis. The enzymatic assay is unreliable for detecting female carriers, who can only be diagnosed reliably by mutational analysis. The measurement of the storage products, globotriaosylceramide (Gb3) in plasma and urine or globotriaosylsphingosine (lyso-Gb3) in plasma can often provide support for a diagnosis and is useful for monitoring treatment. Methods for mass or high-risk screening have been developed based on measuring the α-galactosidase A activity and/or protein in dried blood spots or the storage products in urine collected on filter paper. In the future the detection of mutations in the α-galactosidase A using high-throughput methods for analysing DNA might be the first step rather than a confirmatory one in the diagnosis of Fabry disease.

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Acknowledgements

We acknowledge the experience and dedication of our colleagues in the Enzyme Diagnostic Laboratory at Great Ormond Street Hospital, London, and in the research laboratories at the Institute of Child Health, particularly Dr. Kevin Mills, with whom we worked for many years and without whom this chapter could not have been written. We would also like to thank Dr. Olaf Bodamer for providing us with his unpublished data on the measurement of α-galactosidase activity in dried blood spots using a novel substrate and mass spectrometry.

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  1. Biochemistry Research Group, UCL Institute of Child Health at Great Ormond Street Hospital, University College London, London, UK

    Bryan Winchester & Elisabeth Young

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  1. Bryan Winchester
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  2. Elisabeth Young
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Correspondence to Bryan Winchester .

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Editors and Affiliations

  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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Winchester, B., Young, E. (2010). Laboratory Diagnosis of Fabry Disease. In: Elstein, D., Altarescu, G., Beck, M. (eds) Fabry Disease. Springer, Dordrecht. https://doi.org/10.1007/978-90-481-9033-1_6

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  • DOI: https://doi.org/10.1007/978-90-481-9033-1_6

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