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

Am J Med Genet C Semin Med Genet. 2012 Nov 15;160C(4):285-94. doi: 10.1002/ajmg.c.31347. Epub 2012 Oct 5.


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.

Publication types

  • Research Support, N.I.H., Extramural
  • Review

MeSH terms

  • Behavior Therapy / methods
  • Bile Acids and Salts / administration & dosage
  • Bile Acids and Salts / therapeutic use
  • Cholesterol, Dietary / administration & dosage
  • Cholesterol, Dietary / therapeutic use
  • Clinical Trials as Topic
  • Dietary Supplements
  • Humans
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / administration & dosage
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors / therapeutic use
  • Smith-Lemli-Opitz Syndrome* / diet therapy
  • Smith-Lemli-Opitz Syndrome* / drug therapy
  • Smith-Lemli-Opitz Syndrome* / surgery
  • Smith-Lemli-Opitz Syndrome* / therapy
  • Steroid Metabolism, Inborn Errors / drug therapy*
  • Sterols / metabolism*
  • Treatment Outcome


  • Bile Acids and Salts
  • Cholesterol, Dietary
  • Hydroxymethylglutaryl-CoA Reductase Inhibitors
  • Sterols