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Pathway Description
Cholesteryl Ester Storage Disease
Homo sapiens
Disease Pathway
Lysosomal acid lipase deficiency, also called cholesteryl ester storage disease [CESD], LIPA deficiency or Wolman disease, is a rare autosomal recessive inborn error of metabolism. It's caused by not enough lysosomal acid lipase enzyme is produced at lysosome, which act to break down the fatty material. Lysosomal acid lipase enzyme catalyzes the conversion of cholesterol and fatty acid into cholesterol ester. This disorder is characterized by a large accumulation of cholesterol in the endoplasmic reticulum (ER). Symptoms of the disorder include vomiting, diarrhea, weight loss (i.e. feeding difficulties) and swelling of the abdomen. Lysosomal acid lipase deficiency can be treated with sebelipase alfa.
References
Cholesteryl Ester Storage Disease References
[Metagen: CHOLESTERYL ESTER STORAGE DISEASE](http://metagene.de/program/d.prg?id_d=88)
[OMIM: 278000](http://omim.org/entry/278000})
Coates PM, Cortner JA, Mennuti MT, Wheeler JE: Prenatal diagnosis of Wolman disease. Am J Med Genet. 1978;2(4):397-407. doi: 10.1002/ajmg.1320020409.
Pubmed: 122435
Bernstein DL, Hulkova H, Bialer MG, Desnick RJ: Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol. 2013 Jun;58(6):1230-43. doi: 10.1016/j.jhep.2013.02.014. Epub 2013 Feb 26.
Pubmed: 23485521
Du H, Duanmu M, Witte D, Grabowski GA: Targeted disruption of the mouse lysosomal acid lipase gene: long-term survival with massive cholesteryl ester and triglyceride storage. Hum Mol Genet. 1998 Sep;7(9):1347-54.
Pubmed: 9700186
Steroid Biosynthesis References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Norman, A.W, and Litwack, G. Hormones (2nd ed.) (1997) San Diego : Academic Press.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
Simons J: The $10 billion pill. Fortune. 2003 Jan 20;147(1):58-62, 66, 68.
Pubmed: 12602122
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