Demonstration of a deficiency of glucocerebroside-cleaving enzyme in Gaucher's disease.
Open Access
- 1 July 1966
- journal article
- research article
- Published by American Society for Clinical Investigation in Journal of Clinical Investigation
- Vol. 45 (7) , 1112-1115
- https://doi.org/10.1172/jci105417
Abstract
The level of glucocerebroside-cleaving enzyme has been determined in human tissue specimens with the use of glucose-1-C14 cerebroside. The level of enzymatic activity was found to be markedly attenuated in eleven preparations of Gaucher spleen tissue compared with the values observed in ten non-Gaucher spleen samples. It is suggested that this metabolic defect may account for the accumulation of excessive quantities of glucocerebrosides in Gaucher''s disease.This publication has 8 references indexed in Scilit:
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