Rosalia D’Angelo Rosalia D’Angelo, Federica Monastra, Concetta Scimone, Simona Alibrandi, Luigi Donato, Antonina Sidoti
Abstract
Trimethylaminuria, also known as “fish odor syndrome” is an inherited disease characterized by the accumulation, and consequently, by the excretion of trimethylamine which is the compound responsible for the unpleasant odor. Due to this malodorous condition, patients are devastating from a psychosocial perspective being they marginalized in society. The cause of the syndrome is rooted in the dysfunctional metabolism of trimethylamine that can be caused by a dysbiosis related to gut microbiota or by a deficiency in flavin monooxygenase 3 (FMO3), the essential enzyme for the metabolism of trimethylamine. Nowadays there are reliable diagnostic tests based on genetic analysis of FMO3 gene and on the evaluation of trimethylamine concentration measured in the urine. Although there is no therapy, many simple treatment options exist that may drastically improve the quality of life of these patients. In this paper we provide an approach to identify other genes, related to FMO3, possibly involved in the etiopathogenesis of the trimethylaminuria.
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