Smith-Lemli-Opitz Syndrome

M. Svoboda, Erika Finanger, R. Steiner

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive congenital malformation syndrome due to a defect in the enzyme 7-dehydrocholesterol reductase. This enzyme is critical in cholesterol biosynthesis, and the resulting defect causes decreased cholesterol production and an increase in the potentially toxic cholesterol precursors, 7- and 8-dehydrocholesterol. The clinical phenotype encompasses a wide spectrum. This article provides a brief overview of SLOS including clinical features, diagnosis, current therapy, and future potential therapies.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Pages221-225
Number of pages5
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
DOIs
StatePublished - Jan 1 2014

Keywords

  • 7-Dehydrocholesterol
  • Autism
  • Cholesterol
  • Smith-Lemli-Opitz syndrome
  • Sterol disorders
  • Sterols

ASJC Scopus subject areas

  • Medicine(all)

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