PMID: 6412759Sep 20, 1983Paper

Isolation of 5 alpha-cholestane-3 beta, 7 alpha-diol from bile of patients with cerebrotendinous xanthomatosis. Inefficiency of this steroid as a precursor to cholestanol

Biochimica Et Biophysica Acta
I BjörkhemS Skrede

Abstract

Cerebrotendinous xanthomatosis is a rare, inherited disease characterized by defective bile acid biosynthesis as well as by accumulation of cholesterol and cholestanol. The mechanism behind the accumulation of cholestanol is unknown. Using combined gas chromatography-mass spectrometry, 5 alpha-cholestane-3 beta, 7 alpha-diol could be identified as a minor component in bile from two such patients. There were no significant amounts of this steroid in bile from control subjects. Most probably, the 5 alpha-cholestan-3 beta, 7 alpha-diol found is formed from 7 alpha-hydroxy-4-cholesten-3-one in the liver. 7 alpha-Hydroxy-1-cholesten-3-one, being a normal intermediate in bile acid biosynthesis, is known to accumulate in the liver and bile of patients with cerebrotendinous xanthomatosis, due to a defect of the mitochondrial 26-hydroxylase. The possibility was tested that (7 beta-3H)-labeled 5 alpha-cholestane-3 beta, 7 alpha-diol could be converted into cholestanol by a direct 7 alpha-dehydroxylation in the intestine. This conversion did not occur in rabbits, however, regardless of whether the labelled steroid was administered orally or intracoecally. It is concluded that 5 alpha-cholestane-3 beta, 7 alpha-diol is of little or no impo...Continue Reading

References

May 3, 1976·Clinica Chimica Acta; International Journal of Clinical Chemistry·I Bjorkhem, I Holmberg
Aug 29, 1995·Proceedings of the National Academy of Sciences of the United States of America·S A WhiteR D Fernald
Jun 1, 1963·Analytical Biochemistry·M MAKITA, W W WELLS

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Citations

Jan 1, 1988·Journal of Inherited Metabolic Disease·B J KoopmanA van Spreeken
Sep 1, 1984·Hepatology : Official Journal of the American Association for the Study of Liver Diseases·G Karlaganis, J Sjövall
Mar 29, 2019·The Journal of Animal Ecology·Gordon P SmithDaniel R Papaj

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