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Elevated plasma chitotriosidase activity in various lysosomal storage disorders

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Journal of Inherited Metabolic Disease

Summary

Recently a striking elevation of the activity of chitotriosidase, an endo β-glucosaminidase distinct from lysozyme, was found in plasma from patients with Gaucher type I disease (McKusick 230800). Plasma chitotriosidase originates from activated macrophages and this elevation is secondary to the basic defect in Gaucher disease. To investigate the specificity of this phenomenon, we have investigated 24 different lysosomal storage diseases. In 11 different diseases increased chitotriosidase activity in plasma was found (in 28% of the patients). None of these diseases showed elevations as high as in Gaucher disease. Chitotriosidase was not significantly elevated in plasma from 20 different non-lysosomal enzymopathies or in plasma from patients with infectious diseases associated with hepatomegaly. The results show that marked elevation of chitotriosidase activity in plasma appears to be specific for Gaucher disease. The data further suggest that elevated levels of chitotriosidase activity in plasma from patients with unexplained diseases may be indicative for a lysosomal disorder.

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Authors and Affiliations

  1. Department of Clinical Genetics, Erasmus University, P.O. Box 1738, 3000 DR, Rotterdam, The Netherlands

    Yufeng Guo, Wang He, A. M. Boer, H. Galjaard & O. P. van Diggelen

  2. Institute of Neurology, University Hospital, Nijmegen, The Netherlands

    R. A. Wevers

  3. Department of Epidemiology & Biostatistics, Erasmus University, Rotterdam, The Netherlands

    A. M. de Bruijn

  4. Clinical Genetics Centre, University of Leiden, The Netherlands

    J. E. M. Groener

  5. Department of Biochemistry, Academic Medical Centre, Amsterdam, The Netherlands

    C. E. M. Hollak & J. M. F. G. Aerts

Authors
  1. Yufeng Guo
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  2. Wang He
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  3. A. M. Boer
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  4. R. A. Wevers
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  5. A. M. de Bruijn
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  6. J. E. M. Groener
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  7. C. E. M. Hollak
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  8. J. M. F. G. Aerts
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  9. H. Galjaard
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  10. O. P. van Diggelen
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Guo, Y., He, W., Boer, A.M. et al. Elevated plasma chitotriosidase activity in various lysosomal storage disorders. J Inherit Metab Dis 18, 717–722 (1995). https://doi.org/10.1007/BF02436762

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  • DOI: https://doi.org/10.1007/BF02436762

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