Abstract
Background
Individuals with the metabolic disorder trimethylaminuria may sporadically produce
malodors despite good hygiene. The psychosocial impact of trimethylaminuria can be
considerable. However, trimethylaminuria is difficult to diagnose without specialized
tests, in part because odor production is diet-dependent, and malodors may not be
present during medical examinations. Thus, the prevalence and demographics of trimethylaminuria
remain unclear.
Methods
We tested 353 patients who had unexplained (idiopathic) malodor production for trimethylaminuria
using a standard choline challenge. We also collected basic demographic information.
Results
Approximately one third of patients (118) tested positive for trimethylaminuria. Consistent
with previous reports, women, particularly African American women, were significantly
overrepresented among trimethylaminuria-positive patients. Of note, the same pattern
was seen among trimethylaminuria-negative patients. Also consistent with previous
reports, trimethylaminuria-positive women who were still menstruating tended to produce
higher levels of trimethylamine within ±7 days of menses, although this trend was
statistically marginal (P = .07).
Conclusion
If our patient sample is representative of patients with idiopathic malodor, demographic
information (race and gender) may not be useful in a differential diagnosis of trimethylaminuria.
However, undiagnosed cases of trimethylaminuria may be fairly common among patients
with idiopathic malodor. If so, choline challenge testing should be indicated for
all such patients because trimethylaminuria is responsive to dietary and other treatments.
We speculate that testing also might reveal cases of trimethylaminuria among those
diagnosed with certain psychologic disorders, including olfactory reference syndrome.
Keywords
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Article info
Publication history
Published online: August 17, 2011
Footnotes
Funding: This work was supported in part by patient and private donations. Bonnie Hunt donated funds in memory of her parents, Ida and Percy Hunt.
Conflict of Interest: None.
Authorship: All authors had access to the data and played a role in writing this manuscript.
Identification
Copyright
© 2011 Elsevier Inc. Published by Elsevier Inc. All rights reserved.
