cholesteryl ester storage disease
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cho·les·ter·ol es·ter stor·age dis·ease[MIM*278000]
a lipidosis caused by a deficiency of lysosomal acid lipase activity resulting in widespread accumulation of cholesterol esters and triglycerides in viscera with xanthomatosis, adrenal calcification, hepatosplenomegaly, foam cells in bone marrow and other tissues, and vacuolated lymphocytes in peripheral blood; autosomal recessive inheritance, caused by mutation in the lysosomal acid lipase gene (LIPA) on chromosome 10q.
Farlex Partner Medical Dictionary © Farlex 2012
cholesteryl ester storage diseaseAn autosomal recessive MIM 27800 condition that is the late onset form of lysosomal acid lipase deficiency, which results in tissue accumulation of cholesterol esters and triglycerides.
Hepatosplenomegaly, persistently abnormal LFTs and type-II hyperlipidemia. Untreated CESD leads to hepatic fibrosis, cirrhosis, liver failure and death.
Mutations in LIPA, which encodes lipase A (EC 184.108.40.206), are linked to CESD and Wolman disease.
Segen's Medical Dictionary. © 2012 Farlex, Inc. All rights reserved.
cholesteryl ester storage diseaseCholesterol ester storage disease Molecular medicine An AR defect in lysosomal acid lipase activity, resulting in major tissue accumulation of cholesterol esters and TGs
McGraw-Hill Concise Dictionary of Modern Medicine. © 2002 by The McGraw-Hill Companies, Inc.