Comparison between the biochemical properties of plasma chitotriosidase from normal individuals and from patients with Gaucher disease, GM1-gangliosidosis, Krabbe disease and heterozygotes for Gaucher disease.

Objectives: The aim of the present work was to establish the range of chitotriosidase (CT) activity in normal individuals (controls), patients with Gaucher disease (GD), GM1-gangliosidosis (GM1), Krabbe disease (KD) and heterozygotes for Gaucher disease (HG). The kinetics of the enzyme in the five groups was also investigated.

Design And Methods: Plasma CT activity, as well as Km, Vmax, optimum pH and thermal stability of the enzyme was determined in plasma of controls, GM1, KD, GD and HG subjects.

Application of a comprehensive protocol for the identification of Gaucher disease in Brazil.

Gaucher disease (GD) is a sphingolipidosis caused by a genetic defect that leads to glucocerebrosidase (beta-glucosidase) deficiency. Between January 1982 and October 2003, 1,081 blood samples from patients suspected of having GD were referred for biochemical analysis. The activities of the enzymes beta-glucosidase (beta-glu) and chitotriosidase (CT) were measured in these samples.

Biochemical characterization of chitotriosidase enzyme: comparison between normal individuals and patients with Gaucher 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 Km, Vmax, optimum pH, and thermal stability of the enzyme were determined in the plasma of control, GD, and NPD subjects.

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.