Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol.

@article{Bjrkhem2001OxysterolsIT,
  title={Oxysterols in the circulation of patients with the Smith-Lemli-Opitz syndrome: abnormal levels of 24S- and 27-hydroxycholesterol.},
  author={Ingemar Bj{\"o}rkhem and Lena Starck and Ulla Andersson and Dieter L{\"u}tjohann and Sara von Bahr and Irina Pikuleva and Amir Babiker and Ulf Diczfalusy},
  journal={Journal of lipid research},
  year={2001},
  volume={42 3},
  pages={366-71}
}
Infants with the cholesterol synthesis defect Smith- Lemli-Opitz syndrome (SLO) have reduced activity of the enzyme 7-dehydrocholesterol-7-reductase and accumulate 7-dehydrocholesterol, with the highest concentration in the brain. As a result of the generally reduced content of cholesterol, plasma levels of oxysterols would be expected to be reduced. 24S-hydroxycholesterol is almost exclusively formed in the brain, whereas 27-hydroxycholesterol is mainly formed from extrahepatic and… CONTINUE READING

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