Cholesterol ester storage disease is a rare, inherited disorder (only affecting approximately 50 individuals worldwide) where the breakdown of fats and cholesterol in the body is affected. In effect, large amounts of lipids accumulate in the body, most severely impacting the liver, causing it to become enlarged with time (hepatomegaly). Cirrhosis and atherosclerosis may develop, leading to liver disease and heart attack or stroke. Cholesterol ester storage disease is caused by a mutation on the LIPA gene which is responsible for the creation of the enzyme lysosomal acid lipase. The mutation leads to a deficit of this enzyme, preventing the body from using enzymes properly. This disease is inherited in an autosomal recessive pattern, yet many with the disorder may not even recognize its existence.
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We have 750 products for the study of Cholesterol Ester Storage Disease that can be applied to Western Blot, Chromatin Immunoprecipitation, Flow Cytometry, Immunocytochemistry/Immunofluorescence, Immunohistochemistry from our catalog of antibodies and ELISA kits.