Melissa D. Svoboda, M.D. is a Neurodevelopmental Pediatrics Fellow at Oregon Health & Science University (OHSU). Dr. Svoboda earned her M.D. and completed her Pediatrics residency at the University of Texas Health Science Center at San Antonio. Her current research interests include autism and sterol disorders, especially Smith–Lemli–Opitz syndrome and cerebrotendinous xanthomatosis.
Article first published online: 5 OCT 2012
Copyright © 2012 Wiley Periodicals, Inc.
American Journal of Medical Genetics Part C: Seminars in Medical Genetics
Special Issue: Smith-Lemli-Opitz Syndrome and Related Disorders of Cholesterol Synthesis
Volume 160C, Issue 4, pages 285–294, 15 November 2012
How to Cite
Svoboda, M. D., Christie, J. M., Eroglu, Y., Freeman, K. A. and Steiner, R. D. (2012), Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders. Am. J. Med. Genet., 160C: 285–294. doi: 10.1002/ajmg.c.31347
How to cite this article: Svoboda MD, Christie JM, Eroglu Y, Freeman KA, Steiner RD. 2012. Treatment of Smith–Lemli–Opitz syndrome and other sterol disorders. Am J Med Genet Part C Semin Med Genet 160C: 285–294.
Conflicts of interest: none to declare.
- Issue published online: 22 OCT 2012
- Article first published online: 5 OCT 2012
- HHS U54 HD061939
- HHS R01 HL 073980
- Smith–Lemli–Opitz syndrome;
- sterol disorders;
- cholesterol supplementation;
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. © 2012 Wiley Periodicals, Inc.