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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Authors | Patricia Hall, Virginia Michels, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli |
Journal | Molecular genetics and metabolism
(Mol Genet Metab)
2013 Sep-Oct
Vol. 110
Issue 1-2
Pg. 176-8
ISSN: 1096-7206 [Electronic] United States |
PMID | 23628460
(Publication Type: Journal Article)
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Copyright | Copyright © 2013 Elsevier Inc. All rights reserved. |
Chemical References |
- Dehydrocholesterols
- Piperazines
- Quinolones
- Aripiprazole
- 7-dehydrocholesterol
- Oxidoreductases Acting on CH-CH Group Donors
- 7-dehydrocholesterol reductase
- Trazodone
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Topics |
- Aripiprazole
- Dehydrocholesterols
(blood)
- Humans
- Mutation
- Oxidoreductases Acting on CH-CH Group Donors
(genetics)
- Pathology, Molecular
- Piperazines
(administration & dosage)
- Quinolones
(administration & dosage)
- Smith-Lemli-Opitz Syndrome
(blood, genetics, pathology)
- Trazodone
(administration & dosage)
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