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Case Reports
. 1995;18(3):306-12.
doi: 10.1007/BF00710420.

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

E Treacy  1 , D Johnson, J J Pitt, D M Danks
Affiliations
Case Reports

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

E Treacy et al. J Inherit Metab Dis. 1995.

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.

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