Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith–Lemli–Opitz Syndrome
Abstract
Screening for Smith-Lemli-Opitz Syndrome (SLOS) using elevated 7-dehydrocholesterol (7DHC) as a marker is sensitive, but not always specific. Elevations of 7DHC can be seen in patients who do not have a defect in 7-dehydrocholesterol reductase. These results have often been attributed to medication artifacts, but specific causes have not been well reported. We examined the medical records of patients with elevated 7DHC to determine if they had been diagnosed with SLOS; and if they had not, to identify any common medications that may have caused the elevations. We found three individuals who were affected with SLOS, and 22 with elevated 7DHC in the absence of SLOS. Seven of these individuals underwent molecular testing which showed no mutations, while the other 15 were excluded based on clinical findings and other testing. The medication history of these individuals revealed aripiprazole and trazodone as common medications to all the false positive results.
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Trazodone and buspirone are known to increase 7DHC levels in individuals without SLOS.
“At the time of medical history completion, 2 years after AGRE obtained the blood sample, that subject was treated with trazodone and buspirone medications, which are known to increase 7DHC levels in individuals without SLOS [84, 85].”
From Sterol and lipid analyses identifies hypolipidemia and apolipoprotein disorders in autism associated with adaptive functioning deficits (2021) · cites this paper as [84]
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- Authors
- Hall, P., Michels, V., Gavrilov, D., Matern, D., Oglesbee, D., Raymond, K., Rinaldo, P., & Tortorelli, S.
- Affiliations
- Mayo Clinic (US)
- Corresponding author
- Tortorelli, Silvia
- ORCID
- Venue
- Molecular Genetics and Metabolism
- Publisher
- Elsevier BV
- Published
- 2013-09
- Volume
- 110
- Issue
- 1-2
- Pages
- 176-178
- ISSN
- 1096-7192 (ISSN-L)
- OpenAlex
- W2161757687
- Cited by
- 45
- References
- 16
- Citations by year
- 2026: 3 · 2025: 4 · 2024: 3 · 2023: 3 · 2022: 5 · 2021: 7 · 2020: 5 · 2019: 3 · 2018: 2 · 2017: 4 · 2016: 4 · 2015: 1 · 2013: 1
- FWCI
- 1.31
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Molecular Genetics and Metabolism (publishedVersion)
- PubMed (publishedVersion)
- Topics
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Clinical Biochemistry › Metabolism and Genetic Disorders
- Health Sciences › Medicine › Physiology › Lysosomal Storage Disorders Research
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genomics and Rare Diseases
- Keywords
- 7-dehydrocholesterol, Smith-Lemli-Opitz syndrome, aripiprazole, trazodone, false-positive screening results, DHCR7, screening specificity, cholesterol biosynthesis
- MeSH terms
- Aripiprazole, Dehydrocholesterols, Humans, Mutation, Piperazines, Trazodone, Quinolones, Smith-Lemli-Opitz Syndrome, Oxidoreductases Acting on CH-CH Group Donors, Pathology, Molecular
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