Fiskelugt--det kunne vaere trimethylaminuri

Line Klingen Haugaard, Allan Meldgaard Lund, Poula Patursson, Ernst Christensen

Publikation: Bidrag til tidsskriftTidsskriftartikelForskningpeer review

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.
Bidragets oversatte titel[Fish odour--could be a sign of trimethylaminuria]
OriginalsprogDansk
TidsskriftUgeskrift for Laeger
Vol/bind172
Udgave nummer47
Sider (fra-til)3268-9
Antal sider2
ISSN0041-5782
StatusUdgivet - 22 nov. 2010

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