Enzyme Replacement in Fabry's Disease, an Inborn Error of Metabolism
- 4 September 1970
- journal article
- clinical trial
- Published by American Association for the Advancement of Science (AAAS) in Science
- Vol. 169 (3949), 987-989
- https://doi.org/10.1126/science.169.3949.987
Abstract
Two patients with Fabry's disease were infused with normal plasma to provide active enzyme (ceramide trihexosidase) for hydrolysis of the plasma substrate, galactosylgalactosylglucosylceramide. Maximum ceramide trihexosidase activity occurred 6 hours after infusion of the plasma, attaining a level approximately 150 percent of that in normal plasma; enzymatic activity was detectable for 7 days. The amount of accumulated substrate in the plasma of these recipients decreased about 50 percent on day 10 after infusion. Thus, periodic replacement of ceramide trihexosidase activity in the plasma of patients with Fabry's disease might lead to consistently lower amounts of substrate in the plasma and a decrease in its rate of accumulation in tissues.Keywords
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