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Pathway Description
Wolman Disease
Homo sapiens
Disease Pathway
Created: 2013-08-29
Last Updated: 2022-11-09
In Wolman's disease excessive amounts of cholesterol ester in the liver are present mainly in the macrophages of the reticuloendo- thelial system. The livler in Wiolman's disease contains triglyceride at 10 to 20 times the normal concentratlon, most of whilch is present in hepatocytes. The first case of Wolman's disease was published in 1956 by M. Wolman, M.D., reporting a case of a 2 month old girl who had been admitted to the Hadassah University Hospital. Lysosomal acid lipase/acid cholesteryl ester hydrolase (LAL/ACEH) plays an important role in cellular processing of plasma lipoproteins and thus contributes to both the homeostatic control of plasma lipoprotein levels and the prevention of cellular lipid overload. Wolman's Disease results from severely reduced levels of the enzyme lysosomal acid lipase/acid cholesteryl ester hydrolase.
References
Wolman Disease References
[Metagen: WOLMAN DISEASE](http://metagene.de/program/d.prg?id_d=2)
[OMIM: 278000](http://omim.org/entry/278000})
[NIH](http://ghr.nlm.nih.gov/condition/wolman-disease)
Tylki-Szymanska A, Jurecka A: Lysosomal acid lipase deficiency: wolman disease and cholesteryl ester storage disease. Pril (Makedon Akad Nauk Umet Odd Med Nauki). 2014;35(1):99-106.
Pubmed: 24798600
Steroid Biosynthesis References
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