Lipid accumulation and acid lipase deficiency in fibroblasts from a family with Wolman's disease, and their apparent correction in vitro.

Abstract

Abstract We have previously demonstrated lipid accumulation in fibroblasts cultured from skin biopsies of two children with Wolman's disease. This study was designed to confirm that finding, to measure acid lipase activity of cultured fibroblasts, and to attempt to reduce intracellular accumulation of lipid by a complementation technique. Skin fibroblasts from both patients and their parents showed histochemical evidence of fat accumulation after 3 months in culture. No such change was seen in 7 control subjects. When these cells were assayed for acid lipase activity, 1 child (AD) had much lower levels than the 7 control subjects, while the parents' values were intermediate. No enzyme studies were carried out on the cells from the other child (FD). An autosomal recessive mode of inheritance is postulated. When fat-laden fibroblasts from both patients and the father were exposed for 1 to 2 weeks to media preincubated with normal cells, lipid accumulation demonstrable by fat stains was greatly diminished but returned on withdrawal of the corrective medium.