Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole
- 28 November 1994
- journal article
- Published by Wiley in Journal of Inherited Metabolic Disease
- Vol. 18 (3) , 306-312
- https://doi.org/10.1007/bf00710420
Abstract
Summary: Trimethylaminuria 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.Keywords
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