Cholesteryl Ester Storage Disease

About the Disease
Lysosomal Acid Lipase Deficiency, also known as wolman disease, is related to cholesterol ester storage disease and hypercholesterolemia, familial, 1, and has symptoms including diarrhea and vomiting. An important gene associated with Lysosomal Acid Lipase Deficiency is LIPA (Lipase A, Lysosomal Acid Type), and among its related pathways/superpathways are Transport of inorganic cations/anions and amino acids/oligopeptides and "Plasma lipoprotein assembly, remodeling, and clearance". The drugs Prednisolone phosphate and Prednisolone acetate have been mentioned in the context of this disorder. Affiliated tissues include liver, spleen and bone marrow, and related phenotypes are nausea and vomiting and global developmental delay

Common Targets
LIPA | APOE

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