Enzyme deficiency in cholesteryl ester storage disease
Open Access
- 1 July 1972
- journal article
- Published by American Society for Clinical Investigation in Journal of Clinical Investigation
- Vol. 51 (7) , 1923-1926
- https://doi.org/10.1172/jci106997
Abstract
Cholesteryl ester storage disease has been shown to involve severe deficiency of acid cholesteryl ester hydrolase and triglyceride lipase activity in liver, spleen, and lymph node. The cholesteryl ester hydrolase was also deficient in aorta. Tissue storage of both cholesteryl esters and triglycerides is generalized. Both the lipid and enzymatic changes are very similar to those in Wolman's disease.Keywords
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