Deficient activity of hepatic acid lipase in cholesterol ester storage disease.
Absence of lysosomal acid lipase activity in the liver is described in cholesterol ester storage disease and Wolman's disease. This enzyme deficiency may result in the excess hepatic cholesterol ester found in both conditions. However, clinical, genetic, and histopathologic differences suggest that the two conditions are separate diseases not completely explained by deficient enzyme activity.
D002784:Cholesterol / Q000032:analysis / Q000378:metabolism*; D003124:Colorimetry; D005227:Fatty Acids / Q000032:analysis / Q000096:biosynthesis; D005990:Glycerol / Q000378:metabolism; D006801:Humans; D008049:Lipase / Q000032:analysis*; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology*; D008064:Lipidoses / Q000201:enzymology; D008099:Liver / Q000032:analysis / Q000201:enzymology*; D009829:Oleic Acids / Q000378:metabolism; D010169:Palmitic Acids / Q000378:metabolism; D014973:Xanthomatosis / Q000201:enzymology
D005227:Fatty Acids; D009829:Oleic Acids; D010169:Palmitic Acids; D002784:Cholesterol; D008049:Lipase; D005990:Glycerol