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South African Medical Journal

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Beta-Glucosidase Activity as a Diagnostic Index of Gaucher's Disease

MJ 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).



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