Enzyme Deficiency Studies in Fibroblasts Derived from Patients with Various Familila Lipid metabolism Disorders
Spaulding, Duane R.
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Enzyme studies were done on fibroblasts from patients with several diseases known to be caused by lipid metabolism disorders. The conditions of the assay procedures were standardized using fibroblasts from controls. After the cells from the patients with these diseases were cultured in vitro, enzyme assays utilizing radioactive substrates were performed. The fibroblasts from patients with Wolman's disease and cholesteryl ester storage disease demonstrated the absence of both an acid triglyceride lipase and an acid cholesteryl ester hydrolase normally found in human diploid fibroblasts. Neither the fibroblasts from controls nor those from a patient with Type 1 hyperlipoproteinemia showed measurable activity of lipoprotein lipase at alkaline conditions. The enzymes studied in each disease are known to be defective in certain other types of tissue in patients with these diseases. Our demonstration of the absence of these two acid enzymes in the fibroblasts from patients with Wolman's disease and cholesteryl ester storage disease provides a method for the correct diagnosis of patients having symptoms of these diseases.