Whats that fishy smell
Trimethylaminuria was first discovered in 1970 by J.R. 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 C.T. 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 grea
tly to the stigma of this disorder. It is misleading since the odor is variable"(Harry 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 patient's 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 it has to do with sex hormones. Some cases have no genetic component: Several patients can develop the disorder after kidney or liver disease. Some studies have suggested that people who carry only one copy of a mutated gene may be susceptible to transient fish-odor attacks during periods of stress or after eating foods that contai
Some common words found in the essay are:
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Approximate Word count = 791
Approximate Pages = 3 (250 words per page double spaced)
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