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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans.

Cerebrotendinous xanthomatosis is characterized by the accumulation of cholestanol and cholesterol in xanthomas and brain causing a number of severe symptoms. More than 20 different mutations have been identified in the gene encoding sterol 27-hydroxylase. Defects in the gene lead to reduced bile acid biosynthesis, with accumulation of 7 alpha-hydroxylated intermediates, one of which is a precursor to cholestanol. The disease can be treated successfully with chenodeoxycholic acid, which reduces the upregulation of cholesterol 7 alpha-hydroxylase and, therefore, the formation of cholestanol. Disruption of the gene encoding sterol 27-hydroxylase in mice does not have the same metabolic consequences as in humans.[1]

References

  1. Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans. Björkhem, I., Leitersdorf, E. Trends Endocrinol. Metab. (2000) [Pubmed]
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