Abnormal cholesterol biosynthesis in the Smith-Lemli-Opitz syndrome

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

*Corresponding author for this work

Research output: Contribution to journalReview articlepeer-review

74 Scopus citations

Abstract

The Smith-Lemli-Opitz syndrome is caused by an inherited defect in 7- ehydrocholesterol-Δ7-reductase, the enzyme that catalyzes the last reaction iN cholesterol biosynthesis, the conversion of 7-dehydrocholesterol to cholesterol. As a result, deficient cholesterol is produced and the precursor 7-dehydrocholesterol and derivatives (8-dehydrocholesterol and 19-nor- 5,7,9(10)-cholestatrien-3β-ol) accumulate. Tissues (especially brain) deprived of cholesterol, or because of the deposited sterol precursors and derivatives, develop abnormally and function poorly. Replacement with dietary cholesterol may help correct the biochemical defects and improve symptoms.

Original languageEnglish (US)
Pages (from-to)1169-1180
Number of pages12
JournalJournal of lipid research
Volume37
Issue number6
StatePublished - Jun 1996
Externally publishedYes

Keywords

  • 7-dehydrocholesterol
  • 7-dehydrocholesterol-Δ-reductase
  • 8-dehydrocholesterol
  • lathosterol-5- dehydrogenase

ASJC Scopus subject areas

  • Biochemistry
  • Endocrinology
  • Cell Biology

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