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Trimethylaminuria
Other Names for this Disease
- Fish malodor syndrome
- Fish odor syndrome
- Stale fish syndrome
- TMAU
- TMAuria
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Overview
Trimethylaminuria (TMAU) is a metabolic disorder in which an individual is not able to break down trimethylamine into smaller parts. Trimethylamine is the substance that gives fish their distinctive smell. Since an individual with TMAU is unable to break down trimethylamine, they tend to have a fish-like odor coming from their sweat, urine, reproductive fluids, and breath. TMAU is caused by a mutation in the FMO3 gene and is inherited in an autosomal recessive pattern. This condition can be diagnosed by a test to measure the amount of trimethylamine in urine. Genetic testing can also be performed using a blood sample to diagnose TMAU. Although there is no cure for TMAU, the condition can be managed by reducing the amount of trimethylamine in the body. For example, people with TMAU can modify their diet to avoid foods with high levels of trimethylamine.[1][2]
References
- Trimethylaminuria. Genetics Home Reference Web site. http://ghr.nlm.nih.gov/condition=trimethylaminuria. Accessed July 21, 2010.
- Phillips IR, Shephard EA. Trimethylaminuria. GeneReviews Web site. http://www.ncbi.nlm.nih.gov/books/NBK1103/. Accessed June 1, 2012.
Your Questions Answered
by the Genetic and Rare Diseases Information Center4 question(s) from the public on Trimethylaminuria have been answered. See questions and answers. You can also submit a new question.
On this page
General Information
- Genetics Home Reference (GHR) contains information on Trimethylaminuria. Click on the link to go to GHR and review the information.
- The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
- The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
- PubMed is a searchable database of medical literature and lists journal articles that discuss Trimethylaminuria. Click on the link to view a sample search on this topic.
- The The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Trimethylaminuria. Click on the link to go to OMIM and review these resources.
Selected Full-Text Journal Articles
- Eugene M. Trimethylaminuria. Orphanet Encyclopedia. August 2002.
- Mackay RJ, McEntyre CJ, Henderson C, Lever M, George PM. Trimethylaminuria: causes and diagnosis of a socially distressing condition. Clin Biochem Rev. 2011 Feb;32(1):33-43.
- Shimizu M, Cashman JR, Yamazaki H. Transient trimethylaminuria related to menstruation. BMC Med Genet. 2007 Jan 27;8:2.