Abstract
The diagnosis of the infantile and adult types of Gaucher's disease and the carrier state by the β-glucosidase activities in peripheral blood leukocytes, granulocytes and mononuclear cells was studied. The β-glucosidase activities in three kinds of cells were found to have two pH optima, one at 3.5, the other at 5.0. The enzyme activity at pH 3.5 in mononuclear cells was about 2 and 4 fold as high as in leukocytes and granulocytes.
The β-glucosidase activities at pH 3.5 from the patients with both types of Gaucher's disease were diminished in three kinds of cells, while the enzyme activities at pH 5.0 overlapped the lowest value of heterozygotes. The enzyme activities from five parents at pH 3.5 in mononuclear cells did not overlap the lowest value of normal subjects. On the other hand, the enzyme activities at pH 3.5 in both granulocytes and leukocytes of five parents overlapped the normal values.
Thus the measurement of β-glucosidase activity at pH 3.5 in mononuclear cells makes it possible to distinguish three groups of individuals, Gaucher's patients, heterozygous carriers and normal subjects.
