Main Article Content

Beta-glucosidase activity as a diagnostic index of Gaucher's disease


Michelle J. Losman

Abstract

Gaucher's disease is a disorder characterised by accumulation of glucocerebroside in the cells of the reticuloendothelial system due to the deficit of β-glucosidase. The lack of one iso-enzyme of β-glucosidase can be detected in the Iymphocytes of the homozygotes and a severe deficit is found in the heterozygotes of the disease. We have determined the enzymatic activity in normal and homozygous subjects with Gaucher's disease and investigated relatives and descendants of one of the homozygous patients, among whom 3 carriers were detected.

S. Afr. Med. J., 48, 1150 (1974).

Journal Identifiers


eISSN: 2078-5135
print ISSN: 0256-9574