Deficiency of Acid Esterase Activity in Wolman's Disease
Open Access
- 1 October 1970
- journal article
- research article
- Published by BMJ in Archives of Disease in Childhood
- Vol. 45 (243) , 664-668
- https://doi.org/10.1136/adc.45.243.664
Abstract
Liver, spleen, and leucocytes from patients with acid triglyceride lipase deficiency (Wolman's disease and its clinical variants) were also found to possess greatly reduced activity of an acid esterase acting on fatty acid esters of p-nitrophenol, thereby substantiating the view that a single enzyme is responsible for these different activities. The acid esterase was resistant to the microsomal esterase inhibitor, E600, and showed broad specificity with respect to fatty acid chain length of the p-nitrophenyl esters. Other lysosomal hydrolase activities were increased non-specifically in liver from patients, thus providing further support for the classification of acid lipase deficiency as an inborn lysosomal disease. The highly sensitive leucocyte assay provides a convenient method for the diagnosis of clinical variants of Wolman's disease; it might therefore prove particularly useful in the early detection of affected infants, and also possibly in the differentiation of heterozygotes.Keywords
This publication has 14 references indexed in Scilit:
- Wolman's disease: Deficiency of E600-resistant acid esterase activity with storage of lipids in lysosomesThe Journal of Pediatrics, 1970
- Wolman's disease. A rare lipidosis with adrenal calcification.Archives of Disease in Childhood, 1969
- Deficiency of an Acid Lipase in Wolman's DiseaseNature, 1969
- Hydrolysis of higher fatty acid esters of p-Nitrophenol by rat liver and kidney lysosomesArchives of Biochemistry and Biophysics, 1968
- Primary familial xanthomatosis with adrenal involvement (Wolman's disease). Report of a further case with nervous system involvement and pathogenetic considerations.1968
- Wolman's Disease1European Neurology, 1968
- Wolman's Disease: The First Case in JapanThe Tohoku Journal of Experimental Medicine, 1966
- A Deficiency of Glucocerebrosidase in Gaucher's DiseaseBiochemical Journal, 1965
- Primary familial xanthomatosis with involvement and calcification of the adrenals. Report of two more cases in siblings of a previously described infant.1961
- GENERALIZED XANTHOMATOSIS WITH CALCIFIED ADRENALSArchives of Pediatrics & Adolescent Medicine, 1956