cholesteryl ester storage disease

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

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

单词	cholesteryl ester storage disease
释义	DictionarySeedisease cholesteryl ester storage disease cho·les·ter·ol es·ter stor·age dis·ease [MIM278000] 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 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
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