| Literature DB >> 7097127 |
N B Javitt, E Kok, B Cohen, S Burstein.
Abstract
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.Entities:
Mesh：
Substances：
Year: 1982 PMID： 7097127
Source DB: PubMed Journal: J Lipid Res ISSN： 0022-2275 Impact factor: 5.922