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Trimethylaminuria



Trimethylaminuria Causes


According to studies, most cases appear to have been inherited in an autosomal recessive pattern, meaning, both copies of the gene in each cell have mutations.


Trimethylaminuria Definition


Trimethylaminuria (TMAU) or fish odor syndrome or fish malador syndrome is a metabolic disorder, in which the body is unable to break down trimethylamine, a compound derived from the diet that has a strong odor of rotting fish.


Trimethylaminuria Diagnosis


The standard screening test to diagnose the condition is measurement of urine amino acids. Blood test may also be performed to provide genetic analysis. Since TMAU is a rare disorder, tests to identify elevated levels of trimethylamine may be conducted, which can also identify carriers of the condition.


Trimethylaminuria Symptoms and Signs


If not broken down, trimethylamine builds up in the body and is released in a person's sweat, urine, reproductive fluids, and breath, giving off a strong fishy odor. Affected individuals appear healthy and do not have any other physical symptoms but do have a strong odor all the time. Experts cannot explain why the condition is more common among women but they are hypothesizing that it could be due to the female sex hormones progesterone and/or estrogen.


Trimethylaminuria Treatment


Options to treat the condition is limited and there no cure available. It is still possible for people with the condition however, to lead normal lives, without the fear of being shunned because of the unpleasant odor they give off. Ways to reduce the odor include avoiding foods such as eggs, legumes, certain meats, fish, and foods containing choline, nitrogen, and sulfur, taking low doses of antibiotics to reduce the amount of bacteria in the gut, using pH 5.5 ? 6.5 soaps. A study suggested that daily intake of charcoal and/or copper chlorophyllin may help individuals. The study revealed that 85% of people tested completely lost their odor while 10% partially lost their odor. Behavioral counseling and genetic counseling are also helpful.


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