beta-Glucosidase assays in the diagnosis of Gaucher's disease.

The description in 1965 of glucocerebroside: beta-glucosidase as the enzymic defect in Gaucher's disease stimulated considerable research interest and effort toward establishing rapid, reliable, and inexpensive enzymic assays for diagnostic purposes and carrier detection. Here, we consider some of the methods currently in use in which the substrate is the synthetic glucoside, 4-methylumbelliferyl-beta-D-glucopyranoside, and leukocytes and fibroblasts are the sources of enzyme. We also consider the concepts of the "acid beta-glucosidase" and multiple forms of beta-glucosidase that have been proposed to explain the effectiveness of the fluorometric assays. Finally, we analyze the limitations of each method and discuss the difficulties involved in instituting heterozygote screening programs in the general population.