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Trimethylaminuria, fish odour syndrome: a new method of detection and response to treatment with metronidazole
Author(s) -
Treacy E.,
Johnson D.,
Pitt J. J.,
Danks D. M.
Publication year - 1995
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/bf00710420
Subject(s) - trimethylamine , urine , metronidazole , chemistry , amine gas treating , isotope dilution , choline , fish <actinopterygii> , medicine , antibiotics , carnitine , biology , endocrinology , chromatography , biochemistry , organic chemistry , mass spectrometry , fishery
Summary 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.