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

J Inherit Metab Dis. 1995;18(3):306-12. doi: 10.1007/BF00710420.

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.

Publication types

  • Case Reports

MeSH terms

  • Adult
  • Child
  • Female
  • Humans
  • Male
  • Mass Spectrometry
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / drug therapy*
  • Metabolism, Inborn Errors / urine
  • Methylamines / urine*
  • Metronidazole / therapeutic use*
  • Middle Aged
  • Odorants
  • Oxidoreductases, N-Demethylating / deficiency
  • Radioisotope Dilution Technique

Substances

  • Methylamines
  • Metronidazole
  • Oxidoreductases, N-Demethylating
  • trimethylamine dehydrogenase
  • trimethylamine