CONICET PhD fellow
Director: José Luis Barra
PhD Thesis Topic
Generation of complementary therapies for the treatment of trimethylaminuria, also known as “fish-smell” syndrome
Trimethylaminuria (THMs) is a rare metabolic disorder which in most cases appear to be inherited in an autosomal recessive pattern. It is characterized by the presence of abnormal amounts of trimethylamine (DARK) in the urine, sweat, expired air and other bodily secretions. TMA is a product of the breakdown of dietary chemicals such as choline, lecithin, carnitine and other betaines. Normally, the TMA generated in the intestine is absorbed and oxidized in the liver by the action of the enzyme flavin-containing monooxygenase 3 (FMO3) through a process called N-oxidation. When the enzyme FMO3 does not work correctly, the body loses the ability to transform TMA, which is a highly volatile compound that has a strong fish odor, into the odorless trimethylamine N-oxide (TMAO). The principle consequences of the fish malodor syndrome appear in the main to be psychosocial in nature. This metabolic disorder can be highly destructive to personal, working, and career lives of the affected individuals. There is no known cure for this disorder; current treatments are mainly aimed only at decreasing the intake of food that contains great proportion of the TMA precursors. The main objective of this project is to generate, through the use of recombinant DNA techniques and biotechnological processes, complementary therapies for the treatment of TMAU.