title: Treatment of Smith-Lemli-Opitz syndrome and other sterol disorders.
abstract: 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.
authors.affiliation: Oregon Health&Science University (OHSU), Portland, Oregon 97239, USA.
authors.forename: Melissa D
authors.initials: MD
authors.lastname: Svoboda
authors.forename: Jill M
authors.initials: JM
authors.lastname: Christie
authors.forename: Yasemen
authors.initials: Y
authors.lastname: Eroglu
authors.forename: Kurt A
authors.initials: KA
authors.lastname: Freeman
authors.forename: Robert D
authors.initials: RD
authors.lastname: Steiner
mesh_terms: D001521:Behavior Therapy / Q000379:methods; D001647:Bile Acids and Salts / Q000008:administration & dosage / Q000627:therapeutic use; D002791:Cholesterol, Dietary / Q000008:administration & dosage / Q000627:therapeutic use; D002986:Clinical Trials as Topic; D019587:Dietary Supplements; D006801:Humans; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors / Q000008:administration & dosage / Q000627:therapeutic use; D019082:Smith-Lemli-Opitz Syndrome / Q000178:diet therapy / Q000188:drug therapy / Q000601:surgery / Q000628:therapy; D043202:Steroid Metabolism, Inborn Errors / Q000188:drug therapy*; D013261:Sterols / Q000378:metabolism*; D016896:Treatment Outcome
chemical_list: D001647:Bile Acids and Salts; D002791:Cholesterol, Dietary; D019161:Hydroxymethylglutaryl-CoA Reductase Inhibitors; D013261:Sterols