Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.

@article{Javitt1982CerebrotendinousXR,
  title={Cerebrotendinous xanthomatosis: reduced serum 26-hydroxycholesterol.},
  author={Normal B Javitt and Engeline Kok and Bertram I. Cohen and Sumner Burstein},
  journal={Journal of lipid research},
  year={1982},
  volume={23 4},
  pages={627-30}
}
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… CONTINUE READING

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