TRIMETHYLAMINURIA, FISH ODOR SYNDROME - A NEW METHOD OF DETECTION ANDRESPONSE TO TREATMENT WITH METRONIDAZOLE

Trimethylaminuria is an autosomal recessive disorder involving deficie nt N-oxidation of the dietary-derived amine trimethylamine (TMA). TMA, a volatile tertiary amine, accumulates and is excreted in urine of pa tients with deficient TMA oxidase activity. Treatment strategies for t his condition are limited. We report a new stable-isotope dilution met hod for rapid sequential analysis of TMA concentrations and the clinic al and biochemical response to treatment with metronidazole.