title: Sterol 27-hydroxylase deficiency: a rare cause of xanthomas in normocholesterolemic humans.
abstract: 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.
authors.affiliation: Division of Clinical Chemistry, Karolinska Institutet, Huddinge University Hospital, SE-141 86 Huddinge, Sweden. Ingemar.Bjorkhem@chemlab.hs.sll.se
authors.forename: I
authors.initials: I
authors.lastname: Björkhem
authors.forename: E
authors.initials: E
authors.lastname: Leitersdorf
mesh_terms: D000818:Animals; D053493:Cholestanetriol 26-Monooxygenase; D004083:Cholestanol / Q000378:metabolism; D002784:Cholesterol / Q000097:blood / Q000378:metabolism; D003577:Cytochrome P-450 Enzyme System / Q000172:deficiency* / Q000235:genetics; D004195:Disease Models, Animal; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000150:complications*; D009154:Mutation; D012016:Reference Values; D013250:Steroid Hydroxylases / Q000172:deficiency* / Q000235:genetics; D019294:Xanthomatosis, Cerebrotendinous / Q000175:diagnosis / Q000209:etiology* / Q000235:genetics / Q000628:therapy
chemical_list: D004083:Cholestanol; D003577:Cytochrome P-450 Enzyme System; D002784:Cholesterol; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase