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A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease)

  • Published:
Journal of Inherited Metabolic Disease

Abstract

4-Methylumbelliferyl-α-iduronate 2-sulphate was synthesized and shown to be a specific substrate for the lysosomal iduronate-2-sulphate sulphatase (IDS). Fibroblasts (n = 17), leukocytes (n = 3) and plasmas (n = 9) from different MPS II patients showed <5% of mean normal IDS activity. The enzymatic liberation of the fluorochrome from 4-methylumbelliferyl-α-iduronate 2-sulphate requires the sequential action of IDS and α-iduronidase. A normal level of α-iduronidase activity was insufficient to complete the hydrolysis of the reaction intermediate 4-methylumbelliferyl-α-iduronide formed by IDS. A second incubation step in the presence of excess purified α-iduronidase is needed to avoid underestimation of the IDS activity.

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Authors and Affiliations

  1. Institute of Organic Chemistry, Moscow, Russia

    Ya. V. Voznyi

  2. Department of Clinical Genetics, Erasmus University, Rotterdam, The Netherlands

    J. L. M. Keulemans & O. P. van Diggelen

Authors
  1. Ya. V. Voznyi
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  2. J. L. M. Keulemans
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  3. O. P. van Diggelen
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Voznyi, Y.V., Keulemans, J.L.M. & van Diggelen, O.P. A fluorimetric enzyme assay for the diagnosis of MPS II (Hunter disease). J Inherit Metab Dis 24, 675–680 (2001). https://doi.org/10.1023/A:1012763026526

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  • DOI: https://doi.org/10.1023/A:1012763026526

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