Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.
Serum 26-hydroxycholesterol was quantitated by isotope dilution-mass spectrometry in normal individuals and in patients with cerebrotendinous xanthomatosis. In the normal individuals, the concentration of 26-hydroxycholesterol in serum ranged from 4.3 to 13.0 microgram/100 ml. In five patients with CTX, 26-hydroxycholesterol in serum ranged from 0 to 0.6 microgram/100 ml. The findings can be explained by reduced or absent mitochondrial C27 steroid 26-hydroxylase activity. The method is useful for detection of CTX and perhaps other disturbances of sterol and bite acid metabolism.
D001928:Brain Diseases, Metabolic / Q000097:blood*; D053493:Cholestanetriol 26-Monooxygenase; D008401:Gas Chromatography-Mass Spectrometry; D006801:Humans; D006888:Hydroxycholesterols / Q000097:blood*; D008052:Lipid Metabolism, Inborn Errors / Q000097:blood*; D008928:Mitochondria / Q000201:enzymology; D012016:Reference Values; D013250:Steroid Hydroxylases / Q000378:metabolism; D014973:Xanthomatosis / Q000097:blood*
D006888:Hydroxycholesterols; D013250:Steroid Hydroxylases; C506831:CYP27A1 protein, human; D053493:Cholestanetriol 26-Monooxygenase