Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole

  title={Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole},
  author={E. Treacy and D. Johnson and J. Pitt and D. Danks},
  journal={Journal of Inherited Metabolic Disease},
  • E. Treacy, D. Johnson, +1 author D. Danks
  • Published 2004
  • Chemistry, Medicine
  • Journal of Inherited Metabolic Disease
  • SummaryTrimethylaminuria is an autosomal recessive disorder involving deficientN-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. 
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