Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Graucher and with Niemann-Pick diseases

Objectives: The aim of the present Study was to establish the range of chitotriosidase (CT) activity in normal individuals, patients with Gaucher disease (GD) and Niemann-Pick disease (NPD), types A or B. The kinetics of CT in these three groups was also investigated. Design and methods: CT activity, as well as K-m, V-max, optimum pH, and thermal stability of the enzyme were determined in the plasnia of controL GD, and NPD subjeuts. Results: CT activity in GD and NPD patients was, respectively, around 600-fold and 30-fold greater than in normal individuals. We observed significant differences, in Optimum pH, V-max, and therinal stability between the various groups. K-m was different in normal individuals relative to GD and T\fPD patients. However, there was no significant difference between K-m values in patients with GD and with NPD. Conclusions: Based on the differences found in the biochemical parameters studied, Our results may be important to help the identification of patients not owy with GD but also with NPD. (C) 2004 The Canadian Society of Clinical Chemists. All rights reserved.