Cholestanol metabolism, molecular pathology, and nutritional implications.

@article{Seyama2003CholestanolMM,
  title={Cholestanol metabolism, molecular pathology, and nutritional implications.},
  author={Yousuke Seyama},
  journal={Journal of medicinal food},
  year={2003},
  volume={6 3},
  pages={217-24}
}
Cholestanol, not cholesterol, is a minor component in the human body and in foods, but an increase in cholestanol concentration in serum induces a pathological condition named cerebrotendinous xanthomatosis (CTX). In our investigation of this disease for more than 25 years, a procedure for quantification of cholestanol by high-performance liquid chromatography and an assay method for sterol 27-hydroxylase were established, and several mutations of the CYP 27 gene in 10 CTX families were… CONTINUE READING

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