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Chemical Compound Review

AG-G-76445     (3S,10S,13R,14R,17R)-10,13- dimethyl-17...

Synonyms: SureCN2106790, HMDB02027, AC1L2WBQ, CTK5D2920, LMST01010242, ...
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Disease relevance of 8-Dehydrocholesterol


High impact information on 8-Dehydrocholesterol


Anatomical context of 8-Dehydrocholesterol


Associations of 8-Dehydrocholesterol with other chemical compounds

  • Because the disposition of 7DHC and 8-dehydrocholesterol [8DHC; cholesta-5,8(9)-dien-3beta-ol] produced in this syndrome is little understood, we have analyzed urine from three young infants by gas chromatography/mass spectrometry to characterize its steroid metabolites [9].

Gene context of 8-Dehydrocholesterol


Analytical, diagnostic and therapeutic context of 8-Dehydrocholesterol

  • The aberrant sterols in the treated rats are similar to those detected in human SLO patients by gas chromatography coupled to mass spectrometry (1, 3, 4) and were identified as 7- and 8-dehydrocholesterol, two trienols (I and II), and 19-nor-5,7,9(10)-cholestatrien-3 beta-ol [2].


  1. Identification of 8-dehydrocholesterol (cholesta-5,8-dien-3 beta-ol) in patients with Smith-Lemli-Opitz syndrome. Batta, A.K., Tint, G.S., Shefer, S., Abuelo, D., Salen, G. J. Lipid Res. (1995) [Pubmed]
  2. Changes in serum sterols of rats treated with 7-dehydrocholesterol-delta 7-reductase inhibitors: comparison to levels in humans with Smith-Lemli-Opitz syndrome. Wolf, C., Chevy, F., Pham, J., Kolf-Clauw, M., Citadelle, D., Mulliez, N., Roux, C. J. Lipid Res. (1996) [Pubmed]
  3. Silver ion high pressure liquid chromatography provides unprecedented separation of sterols: application to the enzymatic formation of cholesta-5,8-dien-3 beta-ol. Ruan, B., Shey, J., Gerst, N., Wilson, W.K., Schroepfer, G.J. Proc. Natl. Acad. Sci. U.S.A. (1996) [Pubmed]
  4. Gas chromatography-mass spectrometry and molecular genetic studies in families with the Conradi-Hünermann-Happle syndrome. Has, C., Seedorf, U., Kannenberg, F., Bruckner-Tuderman, L., Folkers, E., Fölster-Holst, R., Baric, I., Traupe, H. J. Invest. Dermatol. (2002) [Pubmed]
  5. Neutral sterols of rat epididymis. High concentrations of dehydrocholesterols in rat caput epididymidis. Lindenthal, B., Aldaghlas, T.A., Kelleher, J.K., Henkel, S.M., Tolba, R., Haidl, G., von Bergmann, K. J. Lipid Res. (2001) [Pubmed]
  6. Sterols in blood of normal and Smith-Lemli-Opitz subjects. Ruan, B., Wilson, W.K., Pang, J., Gerst, N., Pinkerton, F.D., Tsai, J., Kelley, R.I., Whitby, F.G., Milewicz, D.M., Garbern, J., Schroepfer, G.J. J. Lipid Res. (2001) [Pubmed]
  7. Eye findings in 8 children and a spontaneously aborted fetus with RSH/Smith-Lemli-Opitz syndrome. Atchaneeyasakul, L.O., Linck, L.M., Connor, W.E., Weleber, R.G., Steiner, R.D. Am. J. Med. Genet. (1998) [Pubmed]
  8. Molecular, biochemical, and phenotypic analysis of a hemizygous male with a severe atypical phenotype for X-linked dominant Conradi-Hunermann-Happle syndrome and a mutation in EBP. Milunsky, J.M., Maher, T.A., Metzenberg, A.B. Am. J. Med. Genet. A (2003) [Pubmed]
  9. Neonatal urinary steroids in Smith-Lemli-Opitz syndrome associated with 7-dehydrocholesterol reductase deficiency. Shackleton, C.H., Roitman, E., Kelley, R. Steroids (1999) [Pubmed]
  10. Identification of three patients with a very mild form of Smith-Lemli-Opitz syndrome. Langius, F.A., Waterham, H.R., Romeijn, G.J., Oostheim, W., de Barse, M.M., Dorland, L., Duran, M., Beemer, F.A., Wanders, R.J., Poll-The, B.T. Am. J. Med. Genet. A (2003) [Pubmed]
  11. CHILD syndrome caused by deficiency of 3beta-hydroxysteroid-delta8, delta7-isomerase. Grange, D.K., Kratz, L.E., Braverman, N.E., Kelley, R.I. Am. J. Med. Genet. (2000) [Pubmed]
  12. Highly increased CSF concentrations of cholesterol precursors in Smith-Lemli-Opitz syndrome. van Rooij, A., Nijenhuis, A.A., Wijburg, F.A., Schutgens, R.B. J. Inherit. Metab. Dis. (1997) [Pubmed]
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