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WHATS THAT FISHY SMELL Trimethylaminuria was first discovered in 1970 by JR Humbert It was found in a six-year-old girl with multiple pulmonary infections A deficiency of trimethylamine-oxidase was shown in a liver biopsy The mutated gene which is responsible for the disease was only recently identified by CT Dolphin in 1997 as the gene that codes for the enzyme flavin monooxygenase 3 In a normal person dietary choline and trimethylamine-oxide are ingested and broken down by bacteria in the intestines producing trimethylamine This is then absorbed and transported to the liver It is oxidized in the liver by FMO3 to trimethylamine-N-oxide which is odorless It is then excreted in the urine In a person with TMA there is a diminishing FMO3 activity resulting in the loss of oxidation of trimethylamine There becomes an accumulation and massive excretion of trimethylamine in the urine and from areas of active sweating Unoxidized trimethylamine causes the fishy odor of the TMA Odor problems are such a sensitive topic that many people are wary of talking to a doctor about their symptoms The name fish odor syndrome contributes greatly to the stigma of this disorder It is misleading since the odor is variableHarry W McConnell Because trimethylaminuria is so unknown it takes suffers years to find out what is wrong and then even more years to find someone who knows how to properly treat them Since so little is known by doctors and researchers about this disease it makes it very hard to treat Also the patients reaction to the types of treatment varies so there is no real cure for the disease Trimethylaminuria is only occasionally identified during childhood The affected children however are likely to become disturbed and even suicidal because of the problems their odor causes in schools Ertan Mayatepek The odor problems in children seem to disappear as they get older The syndrome seems to occur more in women and researchers suspect that
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