Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Trimethylaminuria


Other Names for this Disease
  • Fish malodor syndrome
  • Fish odor syndrome
  • Stale fish syndrome
  • TMAU
  • TMAuria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Tests & Diagnosis

Newline Maker

Is genetic testing available for trimethylaminuria?

Yes, genetic testing is available for FMO3, the gene known to cause trimethylaminuria.[1] Carrier testing for at-risk relatives and prenatal testing are possible if the disease-causing mutations in the family are known.

The Genetic Testing Registry (GTR) is a centralized online resource for information about genetic tests. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
Last updated: 3/26/2015

How is trimethylaminuria diagnosed?

A diagnosis of trimethylaminuria is often suspected based on the presence of characteristic signs and symptoms. A urine test and/or genetic testing for a change (mutation) in the FMO3 gene can then be ordered to confirm the diagnosis. The urine test measures the level of trimethylamine in the urine when the person is on a non-restricted diet or following a choline challenge (a person is given a dose of choline by mouth prior to the test). People with trimethylaminuria have elevated levels of trimethylamine in the urine.[1][2]

GeneReviews offers more specific information about the diagnosis of trimethylaminuria. To access this resource, please click here.
Last updated: 3/26/2015

References
  1. Phillips I, Shephard E. Trimethylaminuria. GeneReviews. April 19, 2011; http://www.ncbi.nlm.nih.gov/books/NBK1103/.
  2. Trimethylaminuria. NORD. August 2014; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/997/viewAbstract.
  3. Learning about Trimethylaminuria. National Human Genome Research Institute. July 2011; http://www.genome.gov/11508983.


Testing

  • The Genetic Testing Registry (GTR) provides information about the genetic tests for this condition. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional.
  • The Monell Chemical Senses Center is able to assist in the diagnostic testing of patients who may have trimethylaminuria. Monell is a non-profit, basic scientific research center focused on understanding the senses of taste and smell. They are not a medical clinic. If you are interested in more information, you can send an e-mail to bodyodorinfo@monell.org. The Information Center provides the names of these centers for informational purposes only, not as an endorsement of the institutions' products or services.
Other Names for this Disease
  • Fish malodor syndrome
  • Fish odor syndrome
  • Stale fish syndrome
  • TMAU
  • TMAuria
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.