P017: Use of cholic acid in Smith-Lemli-Opitz syndrome (SLOS): Real-world patient outcomes
Smith-Lemli-Opitz Syndrome (SLOS) is an autosomal recessive disorder of cholesterol biosynthesis caused by biallelic pathogenic variants in the DHCR7 gene, which encodes the enzyme 7-dehydrocholesterol reductase. SLOS is a multisystemic disorder affecting various aspects of a patient’s health and development including growth, development and behavior, and quality of life. This underscores the need for safe and efficacious interventions in attempts to limit disease burden. Deficiency in the DHCR7 enzyme leads to a “metabolic block” that results in decreased cholesterol production and accumulation of its precursor 7-dehydrocholesterol (7-DHC) and the secondary isomer 8-dehydrocholesterol (8-DHC).
Authors
- Pamela Vig (ORCID: https://orcid.org/0009-0000-4226-5435)
- Amy Kritzer (ORCID: https://orcid.org/0000-0002-0385-2474)
- Robert D. Steiner (ORCID: https://orcid.org/0000-0003-4177-4590)
- Joseph W. Ray (ORCID: https://orcid.org/0000-0003-4199-2192)
- Jolan Terner-Rosenthal
- Paul Hillman (ORCID: https://orcid.org/0000-0002-9356-7887)
- Hope Northrup (ORCID: https://orcid.org/0000-0002-2892-0840)
- Tiziano Pramparo (ORCID: https://orcid.org/0000-0001-6929-1027)
- P. D. Roberts (ORCID: https://orcid.org/0000-0003-0606-6492)
- Rana Dutta
- Edwin Ferren
- Alvaro Serrano Russi
Institutions
- East Tennessee State University (US)
- Boston Children's Hospital (US)
- Memorial Hermann (US)
- University of Wisconsin–Madison (US)
- Levine Children's Hospital (US)
- Boston Children's Museum (US)
- The University of Texas Medical Branch at Galveston (US)
Publication Details
- Journal
- Genetics in Medicine Open
- Published
- 2025-01-01
- DOI
- https://doi.org/10.1016/j.gimo.2025.102861
- Primary Topic
- Cholesterol and Lipid Metabolism
- Type
- article
- Field-Weighted Citation Impact
- 0.00