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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.

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

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  • 1Oregon Health&Science University (OHSU), Portland, Oregon 97239, USA.

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.

Copyright © 2012 Wiley Periodicals, Inc.

PMID:
23042642
[PubMed - indexed for MEDLINE]
PMCID:
PMC3890258
Free PMC Article

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