Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome

Patricia Hall, Virginia Michels, Dimitar Gavrilov, Dietrich Matern, Devin Oglesbee, Kimiyo Raymond, Piero Rinaldo, Silvia Tortorelli

Research output: Contribution to journalArticle

15 Citations (Scopus)

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.

Original languageEnglish (US)
Pages (from-to)176-178
Number of pages3
JournalMolecular Genetics and Metabolism
Volume110
Issue number1-2
DOIs
StatePublished - Sep 2013

Fingerprint

Smith-Lemli-Opitz Syndrome
Trazodone
Testing
Artifacts
Medical Records
Screening
Defects
Mutation
Aripiprazole
7-dehydrocholesterol

Keywords

  • 7-dehydrocholesterol
  • Aripiprazole
  • Cholesterol
  • Smith-Lemli-Opitz Syndrome
  • Trazodone

ASJC Scopus subject areas

  • Biochemistry
  • Molecular Biology
  • Genetics
  • Endocrinology
  • Endocrinology, Diabetes and Metabolism
  • Medicine(all)

Cite this

Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. / Hall, Patricia; Michels, Virginia; Gavrilov, Dimitar; Matern, Dietrich; Oglesbee, Devin; Raymond, Kimiyo; Rinaldo, Piero; Tortorelli, Silvia.

In: Molecular Genetics and Metabolism, Vol. 110, No. 1-2, 09.2013, p. 176-178.

Research output: Contribution to journalArticle

Hall, Patricia ; Michels, Virginia ; Gavrilov, Dimitar ; Matern, Dietrich ; Oglesbee, Devin ; Raymond, Kimiyo ; Rinaldo, Piero ; Tortorelli, Silvia. / Aripiprazole and trazodone cause elevations of 7-dehydrocholesterol in the absence of Smith-Lemli-Opitz Syndrome. In: Molecular Genetics and Metabolism. 2013 ; Vol. 110, No. 1-2. pp. 176-178.
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