[Diagnosis of "fish odor syndrome" by urine nuclear magnetic resonance proton spectrometry].
BACKGROUND
Trimethylaminuia is an unusual observation, often termed fish odor syndrome. The condition results from reduced ability to oxidize trimethylamine (TMA), which has a fishy odor, into odorless trimethylamine N-oxide (TMAO).


METHODS
Proton nuclear magnetic resonance spectroscopy (MRS) was used as a simple and rapid method to detect TMA and TMAO in the same urine sample without pretreatment. Subjects were considered to have deficient N-oxidation of TMA if the TMAO/TMA ratio was greater than 80 p. 100 (heterozygous) or 65 p. 100 (homozygous).


CONCLUSIONS
Direct proton RRS analysis of urine is well suited for diagnosis of fish odor syndrome. It can be used to detect heterozygous patients and also provides an easily implemented follow-up tool.
Eugène
M
M
Laboratoire de RMN, Explorations Fonctionnelles, Hôpital Saint-Louis, Paris.
D006580:Genetic Carrier Screening / Q000379:methods; D030342:Genetic Diseases, Inborn / Q000235:genetics / Q000517:prevention & control / Q000652:urine*; D006801:Humans; D009682:Magnetic Resonance Spectroscopy / Q000379:methods*; D008744:Methylamines / Q000652:urine*; D016877:Oxidants / Q000652:urine*; D015203:Reproducibility of Results; D013577:Syndrome
D008744:Methylamines; D016877:Oxidants; C005855:trimethyloxamine; C023336:trimethylamine