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) 是一种挥发性的、恶臭的、饮食衍生的胺，主要在结肠中产生并在肝脏中代谢成无味的N-氧化物（TMAO）。在原发性三甲基氨基尿症 (TMAU) 中，含黄素单加氧酶 3 的遗传缺陷导致全身 TMA 水平升高。汗液、呼吸、尿液和其他身体分泌物中 TMA 含量升高，使受 TMAU 影响的个体散发出类似于腐烂鱼的气味。虽然这种疾病可能看起来不是一个重要的健康问题，但它的社会和心理负担可能是毁灭性的。迄今为止，尚无改善该疾病的治疗方法，只有少数药物疗法提供适度和短暂的益处。本综述概述了所研究的 TMAU 治疗方法，并概述了有希望的新研究方向。