Cholesteryl Ester Storage Disease (CESD)

Cholesteryl Ester Storage Disease, also known as cholesterol ester storage disease, is related to lysosomal acid lipase deficiency and wolman disease. An important gene associated with Cholesteryl Ester Storage Disease is LIPA (Lipase A, Lysosomal Acid Type), and among its related pathways/superpathways are Plasma lipoprotein assembly, remodeling, and clearance and Statin inhibition of cholesterol production. The drugs Cyclophosphamide and Busulfan have been mentioned in the context of this disorder. Affiliated tissues include liver and spleen, and related phenotypes are hepatomegaly and nausea and vomiting