Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome

G. Salen*, G. S. Tint, G. Xu, A. K. Batta, M. Irons, E. R. Elias

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

1 Scopus citations

Abstract

We measured plasma sterol concentrations in 7 homozygotes with the Smith-Lemli-Opitz syndrome, 5 heterozygotes and rats treated with BM 15.766, the competitive inhibitor of 7-dehydrocholesterol 7-reductase. Low cholesterol associated with markedly elevated 7-dehydrocholesterol concentrations were detected in the plasma of all homozygotes and inhibitor-treated rats. Heterozygotes were clinically normal and, like control subjects, showed only trace amounts of 7-dehydrocholesterol in plasma. We conclude that the Smith-Lemli-Opitz syndrome is due to an inherited defect in 7 dehydrocholesterol 7-reductase which causes the accumulation of 7-dehydrocholesterol and a deficiency of cholesterol in the plasma, a biochemical abnormality that can be reproduced in rats treated with BM 15.766.

Original languageEnglish (US)
Pages (from-to)506-508
Number of pages3
JournalItalian Journal of Gastroenterology
Volume27
Issue number9
StatePublished - 1995
Externally publishedYes

Keywords

  • Bile acids
  • Cholesterol
  • Smith-Lemli-Opitz syndrome

ASJC Scopus subject areas

  • Gastroenterology

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