Institute of Pharmaceutical Sciences, Department of Chemistry and Applied Biosciences, ETH Zurich, 8093 Zurich, Switzerland.
Institute of Pharmaceutical Sciences, Department of Chemistry and Applied Biosciences, ETH Zurich, 8093 Zurich, Switzerland.
Drug Discov Today. 2020 Sep;25(9):1710-1717. doi: 10.1016/j.drudis.2020.06.026. Epub 2020 Jun 29.
Trimethylamine (TMA) is a volatile, foul-smelling, diet-derived amine, primarily generated in the colon and metabolized in the liver to its odorless N-oxide (TMAO). In primary trimethylaminuria (TMAU), an inherited deficiency in flavin-containing monooxygenase 3 leads to elevated systemic TMA levels. The excretion of elevated amounts of TMA in sweat, breath, urine and other bodily secretions gives individuals affected by TMAU a smell resembling that of rotten fish. Although the disorder might not seem an important health problem, its social and psychological burden can be devastating. To date, no treatment modifying the disorder exists and only a few pharmacological therapies provide modest and transient benefits. This review provides an overview of investigated TMAU treatments and outlines promising new research directions.
三甲胺（TMA）是一种挥发性、有臭味的饮食源性胺，主要在结肠中产生，并在肝脏中代谢为无臭的 N-氧化物（TMAO）。在原发性三甲基氨基尿症（TMAU）中，黄素单加氧酶 3 的遗传性缺乏导致全身性 TMA 水平升高。由于 TMA 在汗液、呼吸、尿液和其他体液中的排泄量增加，受 TMAU 影响的个体散发出类似腐鱼的气味。尽管这种疾病似乎不是一个重要的健康问题，但它带来的社会和心理负担可能是毁灭性的。迄今为止，尚无改变这种疾病的治疗方法，只有少数几种药物疗法能提供适度且短暂的益处。本文综述了已研究的 TMAU 治疗方法，并概述了有前景的新研究方向。
