Accumulated lipids, aberrant fatty acid composition and defective cholesterol ester hydrolase activity in cholesterol ester storage disease

SUMMARY. We con® rmed accumulation of glycogen and lipids, particularly cholesterol esters, in the liver of a patient with cholesterol ester storage disease (CESD). Hepatic cholesterol ester concentration was 100± 200 times that found in normal livers. Analysis of the fatty acid composition indicated a higher proportion (41%) of cholesterol linoleate (C18-2), a slightly lower proportion (33%) of cholesterol oleate (C18-1) and normal proportions (14%) of cholesterol palmitate (C16-0) in the CESD patient compared with the control. This fatty acid composition of cholesterol esters and the fatty acid composition of other classes of lipids in the patient’s liver resembled that of LDL. We also found that acid cholesterol ester hydrolase activity in the CESD liver was reduced to 5% of that in the control liver, while neutral cholesterol ester hydrolase activity remained at the control level. These results suggest that accumulated cholesterol esters were derived mainly from serum LDL and that the accumulation resulted from lack of acid cholesterol ester hydrolase.