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.

cholesteryl ester storage disease

An 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.
 
Clinical findings
Hepatosplenomegaly, persistently abnormal LFTs and type-II hyperlipidemia. Untreated CESD leads to hepatic fibrosis, cirrhosis, liver failure and death.

Molecular pathology
Mutations in LIPA, which encodes lipase A (EC 3.1.1.3), are linked to CESD and Wolman disease.

cholesteryl ester storage disease

Cholesterol ester storage disease Molecular medicine An AR defect in lysosomal acid lipase activity, resulting in major tissue accumulation of cholesterol esters and TGs
References in periodicals archive ?
Desnick, "Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease," Journal of Hepatology, vol.
Brewer Jr., "Cholesteryl ester storage disease and Wolman disease: phenotypic variants of lysosomal acid cholesteryl ester hydrolase deficiency," American Journal of Human Genetics, vol.
New spectrophotometric assays of acid lipase and their use in the diagnosis of Wolman and cholesteryl ester storage diseases. Anal Biochem 1985;145:398-405.

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