Enzyme deficiency in cholesteryl ester storage idisease.
Cholesteryl ester storage disease has been shown to involve severe deficiency of acid cholesteryl ester hydrolase and triglyceride lipase activity in liver, spleen, and lymph node. The cholesteryl ester hydrolase was also deficient in aorta. Tissue storage of both cholesteryl esters and triglycerides is generalized. Both the lipid and enzymatic changes are very similar to those in Wolman's disease.
D000328:Adult; D000368:Aged; D001011:Aorta / Q000201:enzymology; D001344:Autopsy; D002784:Cholesterol / Q000378:metabolism*; D002855:Chromatography, Thin Layer; D004950:Esterases / Q000378:metabolism*; D004952:Esters / Q000378:metabolism; D005776:Gaucher Disease / Q000201:enzymology; D006801:Humans; D008049:Lipase / Q000378:metabolism*; D008052:Lipid Metabolism, Inborn Errors / Q000201:enzymology*; D008064:Lipidoses / Q000201:enzymology* / Q000235:genetics; D008055:Lipids / Q000032:analysis; D008099:Liver / Q000201:enzymology; D008198:Lymph Nodes / Q000201:enzymology; D009542:Niemann-Pick Diseases / Q000201:enzymology; D013154:Spleen / Q000201:enzymology; D014280:Triglycerides / Q000378:metabolism; D014973:Xanthomatosis / Q000235:genetics
D004952:Esters; D008055:Lipids; D014280:Triglycerides; D002784:Cholesterol; D004950:Esterases; D008049:Lipase