[Trimethylaminuria: fish-odor syndrome].
Fish-odor syndrome is due to a rare metabolic defect in which there is massive excretion of the volatile tertiary amine, trimethylamine (TMA) in the urine. The typical fish-like odor of TMA also appears on the breath or in the sweat of affected individuals. In normal man TMA is oxidized to its odorless N-oxide derivative. TMA is of dietary origin, formed by intestinal bacterial degradation of the choline in egg yolk, liver, soybeans, etc., or by reduction of TMA-oxide present in high concentrations in marine fish. 2 sisters with the tentative diagnosis of trimethylaminuria are presented.
Institute of Chemical Pathology, Chaim Sheba Medical Center, Tel Hashomer.
B A
BA
Sela
H
H
Trau
A
A
Spira
D000328:Adult; D005260:Female; D006801:Humans; D008661:Metabolism, Inborn Errors / Q000652:urine*; D008744:Methylamines / Q000652:urine*; D009812:Odorants; D012119:Respiration; D013542:Sweat
D008744:Methylamines; C023336:trimethylamine