Medical papers on Trimethylaminuria are very rare, often taking the form of a reported clinical case. This is the type pbulished today on pubmed. The abstract implies it is about a case in Denmark, which is probably being published to raise awareness rather than any other reason. Any paper about TMAU published in pubmed does help to raise awareness.
Abstract
We present a case with a ten-year-old girl with trimethylaminuria (TMAU). Primary TMAU is caused by a deficiency of flavin monooxygenase 3 (FMO3) due to mutations in the FMO3-gene. Patients suffering from TMAU show an impaired enzymatic oxidation of fish-smelling trimethylamine, and their excretion of this amine in body fluids produces an unpleasant body odour. TMAU is also seen secondary to e.g. liver diseases. It remains unknown if TMAU causes other problems than malodour, and today social and psychological problems are considered the most important consequence. Treatment includes a low-choline diet and antibiotics.
medical paper : Fish odour - could be a sign of trimethylaminuria
We have sent an email to ask where the testing took place, and if others can test there.
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