756 TRIMETHYLAMINURIA: RARE OR UNRECOGNIZED CAUSE OF BODY ODOR?

Abstract

Trimethylaminuria (TMAU) is a rare disorder of choline metabolism reported in 6 patients since its first description 10 years ago. We have found 3 more cases in unrelated caucasians, ages 9-14yrs, with body odor of putrid fish. Urinary TMA concentrations were determined by gas chromatography of alkalinized urine volatiles. Basal TMA concentrations (ug/ml) ranged from 25-100 in patients. As controls random urines were obtained from 96 patients with a variety of disorders without regard to choline ingestion, including 51 children 0-15 yrs. 84/96 values were < 2.0, 91/96 < 7.5. Of the 5 outliers, 3 had vaginal disorders (14-27.8), 2 are unexplained (26.5, 400.8). The 2 TMA-patient mothers assayed showed intermediate concentrations of 10 and 21 ug/ml. For 2 patients, oral choline loading (50mg/kg) produced a several-fold increase in urinary TMA while dietary choline restriction markedly relieved odors. The third patient has not shown this strong choline correlation and is undergoing further metabolic study. We speculate that the incidence of TMAU among individuals with body odors may be much higher than suggested by the few case reports. Physician awareness and wider availability of the assay may help to diagnose and dietarily manage a greater number of patients with this repugnant odor, avoiding the sequelae of psychosocial disturbances and severe emotional disorders.

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