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Pathway Description
Hypercholesterolemia
Homo sapiens
Disease Pathway
Hypercholesterolemia, also called elevated cholesterol, is an autosomal dominant disorder caused by a defective LDLR gene. The LDLR gene codes for a receptor that binds to low-density lipoprotein which are carriers of cholesterol in the blood. The mutation on the LDLR gene causes the removal of cholesterol from the bloodstream to be limited, resulting in a buildup of cholesterol in the blood. This disorder is characterized by a large accumulation of cholesterol in the blood. Symptoms of the disorder include angina, tendon xanthomas increased risk of cardiac arrest. Treatment with atorvastatin, simvastatin or rosuvastatin, in combination with a heart healthy diet and regular exercise is very effective. It is estimated that hypercholesterolemia affects 1 in 500 individuals in most countries.
References
Hypercholesterolemia References
[Uniprot: P31639](http://www.uniprot.org/uniprot/P31639)
[OMIM: Entry 233100](http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=233100)
Renal glycosuria. In: Stanbury, J., Wyngaarden, J., Fredrickson, D. S. (eds.) Metabolic Basis of Inherited Disease (4th ed) (1978) p. 1607-1617. New York: McGraw-Hill.
van den Heuvel LP, Assink K, Willemsen M, Monnens L: Autosomal recessive renal glucosuria attributable to a mutation in the sodium glucose cotransporter (SGLT2). Hum Genet. 2002 Dec;111(6):544-7. doi: 10.1007/s00439-002-0820-5. Epub 2002 Sep 27.
Pubmed: 12436245
De Marchi S, Cecchin E, Basile A, Proto G, Donadon W, Jengo A, Schinella D, Jus A, Villalta D, De Paoli P, et al.: Close genetic linkage between HLA and renal glycosuria. Am J Nephrol. 1984;4(5):280-6. doi: 10.1159/000166826.
Pubmed: 6524599
Elsas LJ, Busse D, Rosenberg LE: Autosomal recessive inheritance of renal glycosuria. Metabolism. 1971 Oct;20(10):968-75.
Pubmed: 5097684
Ibrahim MA, Jialal I: Hypercholesterolemia
Pubmed: 29083750
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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