Sidoti Antonina, D'Angelo Rosalia, Castagnetti Andrea, Viciani Elisa, Scimone Concetta, Alibrandi Simona, Giannini Giuseppe
Department of Biomedical and Dental Sciences and Morphofunctional Imaging, University of Messina, Via Consolare Valeria 1, 98125 Messina, Italy.
Wellmicro Srl, Via Antonio Canova, 30, 40138 Bologna, Italy.
Biology (Basel). 2024 Nov 22;13(12):961. doi: 10.3390/biology13120961.
Trimethylaminuria (TMAU) is a rare metabolic syndrome caused by the accumulation of trimethylamine in the body, causing odor emissions similar to rotten fish in affected patients. This condition is determined by both genetic and environmental factors, especially gut dysbiosis. The multifactorial nature of this syndrome makes for a complex and multi-level diagnosis. To date, many aspects of this disease are still unclear. Recent research revealed the haplotypes' role on the enzyme's catalytic activity. This could explain why patients showing only combined polymorphisms or heterozygous causative variants also manifest the TMAU phenotype. In addition, another research hypothesized that the behavioral disturbances showed by patients may be linked to gut microbiota alterations. Our review considers current knowledge about TMAU, clarifying its molecular aspects, the therapeutic approaches used to limit this condition, and the new therapies that are under study.
三甲胺尿症（TMAU）是一种罕见的代谢综合征，由体内三甲胺积累所致，使患病患者散发出类似臭鱼的气味。这种病症由遗传和环境因素共同决定，尤其是肠道菌群失调。该综合征的多因素性质导致其诊断复杂且涉及多个层面。迄今为止，这种疾病的许多方面仍不明确。最近的研究揭示了单倍型对酶催化活性的作用。这可以解释为什么仅表现出组合多态性或杂合致病变体的患者也会表现出TMAU表型。此外，另一项研究推测患者表现出的行为障碍可能与肠道微生物群改变有关。我们的综述考虑了关于TMAU的当前知识，阐明了其分子层面、用于控制这种病症的治疗方法以及正在研究的新疗法。
