title: Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole.
abstract: Trimethylaminuria is an autosomal recessive disorder involving deficient N-oxidation of the dietary-derived amine trimethylamine (TMA). TMA, a volatile tertiary amine, accumulates and is excreted in urine of patients with deficient TMA oxidase activity. Treatment strategies for this condition are limited. We report a new stable-isotope dilution method for rapid sequential analysis of TMA concentrations and the clinical and biochemical response to treatment with metronidazole.
mesh_terms: D000328:Adult; D002648:Child; D005260:Female; D006801:Humans; D008297:Male; D013058:Mass Spectrometry; D008661:Metabolism, Inborn Errors / Q000175:diagnosis* / Q000188:drug therapy* / Q000652:urine; D008744:Methylamines / Q000652:urine*; D008795:Metronidazole / Q000627:therapeutic use*; D008875:Middle Aged; D009812:Odorants; D010089:Oxidoreductases, N-Demethylating / Q000172:deficiency; D011865:Radioisotope Dilution Technique
chemical_list: D008744:Methylamines; D008795:Metronidazole; D010089:Oxidoreductases, N-Demethylating; C023186:trimethylamine dehydrogenase; C023336:trimethylamine