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Measurement of Chitinase Activity in Biological Samples
03:32

Measurement of Chitinase Activity in Biological Samples

Published on: August 22, 2019

Plasma chitotriosidase activity in children with lysosomal storage disorders

Jayesh J Sheth1, Frenny J Sheth, Nrupesh J Oza

  • 1FRIGE's Institue of Human Genetics, Ahmedabad, India. jshethad1@gmail.com

Indian Journal of Pediatrics
|November 26, 2009
PubMed

Insights

Plasma chitotriosidase (ChT) shows potential as a screening marker for lysosomal storage disorders (LSDs). Moderately elevated ChT can indicate certain LSDs, while markedly elevated levels strongly suggest Gaucher disease or Niemann-Pick disease types A/B.

Area of Science:

  • Biochemistry
  • Genetics
  • Pediatrics

Background:

  • Chitotriosidase (ChT) is an enzyme activated in tissue macrophages.
  • Macrophage activation is common in lysosomal storage disorders (LSDs) due to substrate accumulation.
  • ChT's selective activation suggests its potential as a disease marker.

Purpose of the Study:

  • To evaluate the significance of plasma chitotriosidase (ChT) as a screening marker for lysosomal storage disorders (LSDs) in children.
  • To correlate ChT levels with specific types of LSDs.

Main Methods:

  • Plasma ChT levels were measured in 20 healthy children and 56 children with confirmed LSDs.
  • LSD diagnoses were confirmed by specific lysosomal enzyme studies.
  • Children with LSDs presented with symptoms like developmental regression, skeletal dysplasia, and organomegaly.

Main Results:

  • Plasma ChT levels in healthy controls were 55.21 +/- 20.81 nmol/ml/hr.
  • 13 out of 56 children (23.21%) with LSDs showed ChT levels between 42.88-79.78 nmol/ml/hr.
  • 43 out of 56 children (76.78%) with LSDs had significantly elevated ChT levels (213.74-23,511.40 nmol/ml/hr).
  • Markedly elevated ChT (4,000-23,511 nmol/ml/hr) was observed in all Gaucher disease (GD) and Niemann-Pick disease types A/B (NPD-A/B) cases.

Conclusions:

  • Moderately elevated plasma ChT activity can serve as a positive predictive test for certain LSDs.
  • Markedly elevated ChT levels are a strong indicator for Gaucher disease or Niemann-Pick disease types A/B, making ChT a valuable screening marker for these conditions.

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