ABSTRACT
In general, the mutations in patients with Wolman disease are major alterations that lead to absence of enzyme activity. Symptoms of Wolman disease begin in the early weeks of life, and most patients have died by six months of age; survival as long as 14 months has been observed. Deficiency of the same lysosomal acid lipase that is defective in Wolman disease is found in cholesteryl ester storage disease. Chemical analysis of tissues in both Wolman and cholesteryl ester storage diseases reveals increased quantities of cholesteryl esters and triglycerides. Wolman disease and cholesteryl ester storage disease are caused by allelic recessive genes at the same locus on chromosome 10, causing deficiency of lysosomal acid lipase. Prenatal diagnosis has been accomplished in Wolman disease by demonstration of the deficiency of acid lipase in cultured amniocytes. Cholester ester storage disease is treated with diets low in fat and lipid lowering drugs such as statins and cholestyramine.
