National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Trimethylaminuria is not the name you expected.
Trimethylaminuria is a rare disorder in which the body's metabolic processes fail to alter the chemical trimethylamine. Trimethylamine is notable for its unpleasant smell. It is the chemical that gives rotten fish a bad smell. When the normal metabolic process fails, trimethylamine accumulates in the body, and its odor is detected in the person's sweat, urine and breath. The consequences of emitting a foul odor can be socially and psychologically damaging among adolescents and adults. The genetic or primary form of this disorder is transmitted as an autosomal recessive trait.
The metabolic deficiency occurs as a result of a failure in the cell to make a specific protein, in this case the enzyme flavin-containing monooxygenase 3. Enzymes are nature's catalysts and act to speed up biochemical processes. Without this enzyme, foods containing carnitine, choline and/or trimethylamine N-oxide are processed to trimethylamine and no further, causing a strong fishy odor. A secondary form of trimethylaminuria may result from the side effects of treatment with large doses of the amino-acid derivative L-carnitine (levocarnitine) or choline. This secondary form of the disorder is a result of an overload of trimethylamine. In this case, there is not enough of the enzyme to get rid of the excess trimethylamine.
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Last Updated: 6/30/2015
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