Treatment of Smith-Lemli-Opitz Syndrome and Other Sterol Disorders

Melissa D Svoboda; Jill M Christie; Yasemen Eroglu; Kurt A Freeman; Robert D Steiner

doi:10.1002/ajmg.c.31347

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Treatment of Smith-Lemli-Opitz Syndrome and Other Sterol Disorders

Journal article

Open access

Treatment of Smith-Lemli-Opitz Syndrome and Other Sterol Disorders

Melissa D Svoboda, Jill M Christie, Yasemen Eroglu, Kurt A Freeman and Robert D Steiner

American journal of medical genetics. Part C, Seminars in medical genetics, Vol.160(4), pp.285-294

2012

DOI: 10.1002/ajmg.c.31347

PMCID: PMC3890258

PMID: 23042642

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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.

Medical Genetics

Biological and medical sciences

Disorders of blood lipids. Hyperlipoproteinemia

Medical sciences

Metabolic diseases

Details

Title: Subtitle: Treatment of Smith-Lemli-Opitz Syndrome and Other Sterol Disorders
Creators: Melissa D Svoboda - Oregon Health & Science University
Jill M Christie - Oregon Health & Science University
Yasemen Eroglu - OHSU Division of Pediatric Gastroenterology, United States
Kurt A Freeman - OHSU, United States
Robert D Steiner - Faculty in Pediatrics, Molecular and Medical Genetics, and Program in Molecular and Cellular Biosciences at OHSU, United States
Resource Type: Journal article
Publication Details: American journal of medical genetics. Part C, Seminars in medical genetics, Vol.160(4), pp.285-294
DOI: 10.1002/ajmg.c.31347
PMID: 23042642
PMCID: PMC3890258
NLM abbreviation: Am J Med Genet C Semin Med Genet
ISSN: 1552-4868
eISSN: 1552-4876
Publisher: Wiley-Liss
Language: English
Date published: 2012
Academic Unit: Stead Family Department of Pediatrics; Gastroenterology, Hepatology, Pancreatology, and Nutrition
Record Identifier: 9984694754002771

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