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Concise Publication Free access | 10.1172/JCI106997

Enzyme deficiency in cholesteryl ester storage disease

Howard R. Sloan and Donald S. Fredrickson

1National Heart and Lung Institute, National Institutes of Health, Bethesda, Maryland 20014

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1National Heart and Lung Institute, National Institutes of Health, Bethesda, Maryland 20014

Find articles by Fredrickson, D. in: JCI | PubMed | Google Scholar

Published July 1, 1972 - More info

Published in Volume 51, Issue 7 on July 1, 1972
J Clin Invest. 1972;51(7):1923–1926. https://doi.org/10.1172/JCI106997.
© 1972 The American Society for Clinical Investigation
Published July 1, 1972 - Version history
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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.

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