Primary trimethylaminuria or fish odor syndrome is an inborn error of metabolism, due to the defect in the hepatic oxidation of trimethylamine (TMA) to trimethylamine N-oxide (TMANO). TMA comes from the metabolism of dietary precursors such as choline, carnitine and TMANO. Its excretion in abnormal quantities in urine, sweat, exhaled air and other body secretions gives off a strong odor reminiscent of rotten fish. Affected patients generally develop serious psychosocial problems. In many people, personality disorders, obsession with body hygiene, anxiety symptoms and severe depressive syndromes develop1. The first symptoms appear in childhood, but medical ignorance, together with the patient's lack of knowledge, who is often reluctant to consult, is probably the main cause of diagnostic delay.
Diagnostic confirmation is simple, it is performed by quantifying TMA and TMANO2 in urine. Currently there is no etiological treatment, but the controlled elimination from the diet of foods rich in choline and TMANO, which are the main dietary precursors of TMA, greatly reduces symptoms and patients considerably improve their quality of life.
Primary trimethylaminuria or fish odor syndrome is an inborn error of metabolism, due to the defect in the hepatic oxidation of trimethylamine (TMA) to trimethylamine N-oxide (TMANO). TMA comes from the metabolism of dietary precursors such as choline, carnitine and TMANO. Its excretion in abnormal quantities in urine, sweat, exhaled air and other body secretions gives off a strong odor reminiscent of rotten fish. Affected patients generally develop serious psychosocial problems. In many people, personality disorders, obsession with body hygiene, anxiety symptoms and severe depressive syndromes develop1. The first symptoms appear in childhood, but medical ignorance, together with the patient's lack of knowledge, who is often reluctant to consult, is probably the main cause of diagnostic delay.
Diagnostic confirmation is simple, it is performed by quantifying TMA and TMANO2 in urine. Currently there is no etiological treatment, but the controlled elimination from the diet of foods rich in choline and TMANO, which are the main dietary precursors of TMA, greatly reduces symptoms and patients considerably improve their quality of life.