Accumulation of oxygenated steryl esters in Wolman's disease.
7alpha- and 7beta-hydroxycholesteryl esters, 7-ketocholesteryl esters, and 5,6alpha- and 5,6beta-epoxycholesteryl esters have been identified in tissues of patients affected by Wolman's disease. Their structural identities were determined by mass spectroscopy and nuclear magnetic resonance spectroscopy and confirmed by chemical synthesis. It is postulated that cholesteryl ester hydrolase deficiency in Wolman's disease might lead to accumulation of oxygenated steryl esters in vivo and impairment of bile acid formation.
D000311:Adrenal Glands / Q000378:metabolism; D000328:Adult; D001647:Bile Acids and Salts / Q000096:biosynthesis; D001796:Blood Protein Disorders / Q000235:genetics / Q000378:metabolism; D002250:Carbon Radioisotopes; D002784:Cholesterol / Q000031:analogs & derivatives* / Q000378:metabolism; D002855:Chromatography, Thin Layer; D004852:Epoxy Compounds / Q000378:metabolism; D004950:Esterases / Q000378:metabolism; D005260:Female; D006801:Humans; D006888:Hydroxycholesterols / Q000031:analogs & derivatives / Q000378:metabolism; D007223:Infant; D007664:Ketosteroids / Q000378:metabolism; D008064:Lipidoses / Q000235:genetics / Q000378:metabolism*; D008075:Lipoproteins, HDL; D008099:Liver / Q000378:metabolism; D013058:Mass Spectrometry; D012157:Mononuclear Phagocyte System / Q000378:metabolism; D014066:Palatine Tonsil / Q000378:metabolism; D013154:Spleen / Q000378:metabolism; D013229:Stearic Acids / Q000378:metabolism*; D014316:Tritium; D014973:Xanthomatosis / Q000235:genetics / Q000378:metabolism*
D001647:Bile Acids and Salts; D002250:Carbon Radioisotopes; D004852:Epoxy Compounds; D006888:Hydroxycholesterols; D007664:Ketosteroids; D008075:Lipoproteins, HDL; D013229:Stearic Acids; D014316:Tritium; D002784:Cholesterol; D004950:Esterases