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Diagnosis of Gaucher's disease in cultured skin fibroblasts and leucocytes

  • Published:
Journal of Inherited Metabolic Disease

Abstract

Washing skin fibroblasts or leucocytes in 0.25 mol/l sucrose increases the activity ofβ-glucosidase at acid pH. This effect is primarily due to removal of low levels of sodium chloride, which inhibit acidβ-glucosidase. A secondary factor for skin fibroblasts is the removal of residual phosphate buffer pH 7.3 used to wash the cells following trypsinization. As theβ-glucosidase activity of water-lysed leucocytes is higher at acid pH than that of a saline suspension of leucocytes, the former are better for the diagnosis of Gaucher's disease. However, more reliable results still may be obtained by assay of this enzyme in cultured skin fibroblasts.

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Authors and Affiliations

  1. Department of Pathology, Royal Hospital for Sick Children, EH9 1LF, Edinburgh, Scotland

    J. Butterworth & D. M. Broadhead

Authors
  1. J. Butterworth
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  2. D. M. Broadhead
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Butterworth, J., Broadhead, D.M. Diagnosis of Gaucher's disease in cultured skin fibroblasts and leucocytes. J Inherit Metab Dis 1, 111–113 (1978). https://doi.org/10.1007/BF01805685

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  • DOI: https://doi.org/10.1007/BF01805685

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