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Diseases

Genetic and Rare Diseases Information Center (GARD)

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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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Your Questions Answered


4 question(s) from the public on this disease have been answered. Submit a new question.
  • After questioning our doctor as to why our son occasionally had a fishy smell, our son was diagnosed as a carrier of trimethylaminuria.  Through genetic testing, it was identified that he has a heterozygous mutation. This obviously means that at least either myself or my husband is a carrier also.  What are the carrier incidence rates?  I am currently pregnant and am wondering what the chances are that future children could have the full syndrome.  In other words, what are the chances that the both my husband and I are carriers? Click here for answer

  • My daughter is 9 months old and has Down syndrome. She also has a strong, fish-like odor coming from the mouth. Is it possible that she could also have trimethylaminuria? How might a person be tested for this condition? Click here for answer

  • Can the high levels of trimethylamine and fishy smell just involve the urine? Click here for answer

  • Although I have not been diagnosed with trimethylaminuria, I have been having a foul odor for about 2 years.  Can you tell me more about this condition? How can I be tested for this condition? How is it treated? Is there a cure for trimethylaminuria? Click here for answer