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

Fingerprint

Smith-Lemli-Opitz Syndrome
Cholesterol
Poisons
Enzymes
Phenotype
Therapeutics

Keywords

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

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Svoboda, M., Finanger, E., & Steiner, R. (2014). Smith-Lemli-Opitz Syndrome. In Encyclopedia of the Neurological Sciences (pp. 221-225). Elsevier Inc.. https://doi.org/10.1016/B978-0-12-385157-4.00093-2

Smith-Lemli-Opitz Syndrome. / Svoboda, M.; Finanger, Erika; Steiner, R.

Encyclopedia of the Neurological Sciences. Elsevier Inc., 2014. p. 221-225.

Research output: Chapter in Book/Report/Conference proceedingChapter

Svoboda, M, Finanger, E & Steiner, R 2014, Smith-Lemli-Opitz Syndrome. in Encyclopedia of the Neurological Sciences. Elsevier Inc., pp. 221-225. https://doi.org/10.1016/B978-0-12-385157-4.00093-2
Svoboda M, Finanger E, Steiner R. Smith-Lemli-Opitz Syndrome. In Encyclopedia of the Neurological Sciences. Elsevier Inc. 2014. p. 221-225 https://doi.org/10.1016/B978-0-12-385157-4.00093-2
Svoboda, M. ; Finanger, Erika ; Steiner, R. / Smith-Lemli-Opitz Syndrome. Encyclopedia of the Neurological Sciences. Elsevier Inc., 2014. pp. 221-225
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