Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders

Melissa D. Svoboda, Jill M. Christie, Yasemen Eroglu, Kurt A. Freeman, Robert D. Steiner

Research output: Contribution to journalArticlepeer-review

47 Scopus citations


Smith-Lemli-Opitz syndrome (SLOS) is an autosomal recessive genetic condition with a broad phenotype that results from deficiency of the final enzyme of the cholesterol synthesis pathway. This defect causes low or low-normal plasma cholesterol levels and increased 7- and 8-dehydrocholesterol (DHC) levels. Many therapies for SLOS and other disorders of sterol metabolism have been proposed, and a few of them have been undertaken in selected patients, but robust prospective clinical trials with validated outcome measures are lacking. We review the current literature and expert opinion on treatments for SLOS and other selected sterol disorders, including dietary cholesterol therapy, statin treatment, bile acid supplementation, medical therapies, and surgical interventions, as well as directions for future therapies and treatment research.

Original languageEnglish (US)
Pages (from-to)285-294
Number of pages10
JournalAmerican Journal of Medical Genetics, Part C: Seminars in Medical Genetics
Volume160 C
Issue number4
StatePublished - Nov 15 2012
Externally publishedYes


  • Behavior
  • Cholesterol supplementation
  • Simvastatin
  • Smith-Lemli-Opitz syndrome
  • Sterol disorders

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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