Cholesteryl Lignocerate Hydrolysis in Adrenoleukodystrophy

Summary: Because cholesteryl esters with very long chain fatty acids accumulate in Schilder adrenoleukodystrophy, the ability of extracts of such fibroblasts to hydrolyze [14C]cholesteryl lignocerate was examined. Hydrolytic activity was detected at pH 3.0, and this activity was impaired by sulfhydryl inactivating agents. Cholesteryl lignocerate hydrolysis was deficient in cells from patients with cholesteryl ester storage disease or Wolman disease due to acid lipase deficiency, but was in the control range for adrenoleukodystrophy fibroblasts. This suggests that cholesteryl lignocerate hydrolysis can be carried out by acid lipase. Speculation: Deficiency of a specific lysosomal lipase is probably not the genetic defect in Schilder adrenoleukodystrophy. A defect in long chain fatty acid metabolism may be more likely.