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Pathway Description
27-Hydroxylase Deficiency
Homo sapiens
Disease Pathway
Sterol 27-hydroxylase is a mitochondrial cytochrome P-450 species (CYP27) that catalyzes the first step in the degradation of steroid side chain in cholesterol to produce bile acids in the liver. When there are low concentrations of 27-Hydroxylase, patients will exhibit cerebrotendinous xanthomatosis, an autosomal recessive disorder characterized by the accumulation of cholestanol and cholesterol due to the inability to break down the lipids. The formation of xanthomas (deposits of lipids) in the nervous system and tendons will cause symptoms such as dementia, ataxia, and cataracts. Other symptoms may include damaged liver cells and body tissues.
References
27-Hydroxylase Deficiency References
Bjorkhem I, Leitersdorf E: Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans. Trends Endocrinol Metab. 2000 Jul;11(5):180-3.
Pubmed: 10856919
Chiang JYL, Ferrell JM: Bile Acid Metabolism in Liver Pathobiology. Gene Expr. 2018 May 18;18(2):71-87. doi: 10.3727/105221618X15156018385515. Epub 2018 Jan 11.
Pubmed: 29325602
Bjorkhem I, Andersson O, Diczfalusy U, Sevastik B, Xiu RJ, Duan C, Lund E: Atherosclerosis and sterol 27-hydroxylase: evidence for a role of this enzyme in elimination of cholesterol from human macrophages. Proc Natl Acad Sci U S A. 1994 Aug 30;91(18):8592-6. doi: 10.1073/pnas.91.18.8592.
Pubmed: 8078928
Bile Acid Biosynthesis References
Lehninger, A.L. Lehninger principles of biochemistry (4th ed.) (2005). New York: W.H Freeman.
Lodish, H. et al. Molecular cell biology. (2004) New York: W.H Freeman.
Vance, D.E., and Vance, J.E. Biochemistry of lipids, lipoproteins, and membranes (4th ed.) (2002) Amsterdam; Boston: Elsevier.
Salway, J.G. Metabolism at a glance (3rd ed.) (2004). Alden, Mass.: Blackwell Pub.
Chiang JY: Bile acid metabolism and signaling. Compr Physiol. 2013 Jul;3(3):1191-212. doi: 10.1002/cphy.c120023.
Pubmed: 23897684
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