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.
| Translated title of the contribution | [Fish odour--could be a sign of trimethylaminuria] |
|---|---|
| Original language | Danish |
| Journal | Ugeskrift for Laeger |
| Volume | 172 |
| Issue number | 47 |
| Pages (from-to) | 3268-9 |
| Number of pages | 2 |
| ISSN | 0041-5782 |
| Publication status | Published - 22 Nov 2010 |