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.
journal_name
Mol Genet Metabjournal_title
Molecular genetics and metabolismauthors
Hall P,Michels V,Gavrilov D,Matern D,Oglesbee D,Raymond K,Rinaldo P,Tortorelli Sdoi
10.1016/j.ymgme.2013.04.004subject
Has Abstractpub_date
2013-09-01 00:00:00pages
176-8issue
1-2eissn
1096-7192issn
1096-7206pii
S1096-7192(13)00113-3journal_volume
110pub_type
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