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

Authors

  • Melissa D. Svoboda,

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    • 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.

  • Jill M. Christie,

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    • Jill M. Christie, MPAS, PA-C is a Physician Assistant at Oregon Health & Science University, where she trained. She is a co-investigator on metabolic disease clinical research studies, including Smith–Lemli–Opitz syndrome, osteogenesis imperfecta, Fabry disease, mucopolysaccharidoses, neuronal ceroid lipofuscinoses, and Gaucher disease.

  • Yasemen Eroglu,

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    • Yasemen Eroglu, M.D. is a Clinical Associate Professor at OHSU in the Division of Pediatric Gastroenterology. She completed her Pediatric Gastroenterology and Hepatology fellowship at Northwestern University, Children's Memorial Hospital, Chicago, IL and Clinical Biochemical Genetics fellowship at Mount Sinai Medical Center, Department of Human Genetics, New York, NY. Her clinical and research interests include pediatric liver diseases, bile acid disorders, metabolic liver diseases, cerebrotendinous xanthomatosis, and Smith–Lemli–Opitz syndrome.

  • Kurt A. Freeman,

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    • Kurt A. Freeman, Ph.D., ABPP, is an Associate Professor of Pediatrics and Psychiatry at OHSU. Dr. Freeman earned his doctorate in Clinical Child Psychology from West Virginia University and is board certified in Clinical Child and Adolescent Psychology. Dr. Freeman's research focuses on behavioral assessment and treatment of aberrant behavior displayed by individuals with various neurodevelopmental disorders.

  • Robert D. Steiner

    Corresponding author
    • Department of Pediatrics, Oregon Health & Science University, 707 SW Gaines St. CDRC-P, Portland, OR 97239.
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    • Robert D. Steiner, M.D. is Credit Unions for Kids Professor of Pediatric Research, Vice Chair for Research in Pediatrics, and Faculty in Pediatrics, Molecular and Medical Genetics, and Program in Molecular and Cellular Biosciences at OHSU. Dr. Steiner earned his medical degree at the University of Wisconsin, followed by Pediatrics Residency at Children's Hospital and Medical Center in Cincinnati, and fellowship in Clinical Genetics and Clinical Biochemical Genetics at the University of Washington. He is principal investigator of the Sterol and Isoprenoid Research Consortium, (STAIR), a Rare Disease Clinical Research Consortium (RDCRC) in the NIH Rare Disease Clinical Research Network (RDCRN).


  • 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.

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. © 2012 Wiley Periodicals, Inc.

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