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Cholesterol Ester Storage Disease Cesd

Cholesterol Ester Storage Disease (CESD) is a rare genetic disorder that affects the breakdown and storage of cholesterol in the body. It is caused by mutations in the LIPA gene, which codes for the lysosomal acid lipase enzyme. Symptoms of CESD include enlarged liver and spleen, abnormal lipid levels, and an increased risk of cardiovascular disease.

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