Heterogeneity of tissue sterols and glycerolipids in Wolman's disease

Abstract

Wolman's disease is a genetic disease in which deficiency of an acid lipase results in the accumulation of cholesteryl esters, and in some tissues, of triacylglycerols (1,2). Other, uncommon lipid esters have been found in a few cases of Wolman's disease. Glyceryl ether lipids were identified in a single case of Wolman's disease (3). 7α- and 7β-hydroxycholesteryl esters, 7-ketocholesteryl esters, 5,6α- and 5,6β-epoxycholesteryl esters were found in the livers, adrenals, and spleens of two unrelated patients (4). This is the first report of the accumulation of both glyceryl ether lipids and oxygenated cholesteryl esters in Wolman's disease. The patient, a new case, was a sibling of the case we presented earlier (3,5).