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Journal of Inherited Metabolic Disease

, Volume 18, Issue 6, pp 717–722 | Cite as

Elevated plasma chitotriosidase activity in various lysosomal storage disorders

  • Yufeng Guo
  • Wang He
  • A. M. Boer
  • R. A. Wevers
  • A. M. de Bruijn
  • J. E. M. Groener
  • C. E. M. Hollak
  • J. M. F. G. Aerts
  • H. Galjaard
  • O. P. van Diggelen
Article

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.

Keywords

Gauche Disease Glycogen Storage Disease Lysosomal Storage Disorder Lysosomal Storage Disease Metachromatic Leukodystrophy 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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References

  1. Beutler E, Grabowski GA (1995) Gaucher disease. In Scriver CR, Beaudet WS, Sly WS, Valle D, eds.The Metabolic and Molecular Bases of Inherited Disease, 7th edn. New York: McGraw-Hill, 2641–2670.Google Scholar
  2. Den Tandt WR, Inaba T, Verhamme I, Overdijk B, Brouwer J, Prieur D (1988) Non-identity of human plasma lysozyme and 4-methylumbelliferyl-tetra-N-acetyl-β-d-chitotetraoside hydrolase.Int Biochem. 20: 713–719.CrossRefGoogle Scholar
  3. Hollak CEM, van Weely S, van Oers MHJ, Aerts JMFG (1994) Marked elevation of plasma chitotriosidase activity. A novel hallmark of Gaucher disease.J Clin Invest 93: 1288–1292.PubMedCrossRefGoogle Scholar

Copyright information

© Society for the Study of Inborn Errors of Metabolism and Kluwer Academic Publishers 1995

Authors and Affiliations

  • Yufeng Guo
    • 1
  • Wang He
    • 1
  • A. M. Boer
    • 1
  • R. A. Wevers
    • 2
  • A. M. de Bruijn
    • 3
  • J. E. M. Groener
    • 4
  • C. E. M. Hollak
    • 5
  • J. M. F. G. Aerts
    • 5
  • H. Galjaard
    • 1
  • O. P. van Diggelen
    • 1
  1. 1.Department of Clinical GeneticsErasmus UniversityRotterdamThe Netherlands
  2. 2.Institute of NeurologyUniversity HospitalNijmegenThe Netherlands
  3. 3.Department of Epidemiology & BiostatisticsErasmus UniversityRotterdamThe Netherlands
  4. 4.Clinical Genetics CentreUniversity of LeidenThe Netherlands
  5. 5.Department of BiochemistryAcademic Medical CentreAmsterdamThe Netherlands

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