Biochemical study on beta-glucosidase in individuals with Gaucher's disease and normal subjects.

BACKGROUND

Gaucher's disease (GD) is a disorder caused by the deficiency of lysosomal beta-glucosidase, an enzyme that participates in the degradation of glycosphingolipids. Deficiency of this enzyme results in the accumulation of glucocerebrosides in macrophage lysosomes. No studies comparing the biochemical and kinetic behavior of this enzyme in leukocytes and fibroblasts from normal individuals and patients with Gaucher's disease are available.

METHODS

We compared the activities of beta-glu and chitotriosidase between normal subjects and Gaucher disease patients, and characterized the behavior of beta-glu in terms of pH optimum, heat stability, Km and Vmax.

RESULTS

The results showed a different behavior of the enzyme in the groups analyzed.

CONCLUSIONS

This finding might be useful in cases in which the measurement of enzyme activity alone is not reliable for the establishment of the diagnosis of Gaucher's disease.