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cholesterol ester storage disease

 

Definition: 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.

Synonym(s): cholesteryl ester storage disease, Wolman disease, Wolman xanthomatosis

Further information

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© Copyright 2018 Wolters Kluwer. All Rights Reserved. Review date: Sep 19, 2016.

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