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Trimethylaminuria

Trimethylaminuria is a 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. As trimethylamine builds up in the body, it causes affected people to give off a fish-like odor in their sweat, urine, and breath. The intensity of this odor may vary over time. In many cases, the strong body odor interferes with an affected person's relationships, social life, and career. People with trimethylaminuria may experience depression and social isolation as a result of this condition. more...

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Diagnosis

The only test for trimethylaminuria at this time is a urine test for elevated levels of trimethylamine.

A similar test can be used to identify carriers of this condition - those individuals who carry one copy of a mutated gene but do not have symptoms. In this case, the person would be given a high dose of choline (one of the precursors of trimethylamine) and then have their urine tested for elevated levels of trimethylamine.

Treatment

Although there is no cure for trimethylaminuria, it is possible for people with this condition to live normal, healthy lives without the fear of being shunned because they smell like rotten fish. Ways of reducing the odor include:

  • Avoiding foods containing choline and trimethylamine-oxide, the precursors of trimethylamine.
  • Taking low doses of antibiotics to reduce the amount of bacteria in the gut.
  • Using soaps with a moderate pH, between 5.5 and 6.5.

Also helpful are:

  • Behavioral counseling to help with depression and other psychological symptoms.
  • Genetic counseling to better understand how they developed the condition and to be aware of the risks of passing it on to the next generation.

Genetics

Most cases of trimethylaminuria appear to be inherited in an autosomal recessive pattern, which means two copies of the gene in each cell are altered. Most often, the parents of an individual with an autosomal recessive disorder are carriers of one copy of the altered gene. Carriers may have mild symptoms of trimethylaminuria or experience temporary episodes of fish-like body odor.

Mutations in the FMO3 gene cause trimethylaminuria. The FMO3 gene makes an enzyme that breaks down nitrogen-containing compounds from the diet, including trimethylamine. This compound is produced by bacteria in the intestine as they digest proteins from eggs, meat, soy, and other foods. Normally, the FMO3 enzyme converts fishy-smelling trimethylamine into another molecule that has no odor. If the enzyme is missing or its activity is reduced because of a mutation in the FMO3 gene, trimethylamine is not broken down and instead builds up in the body. As the compound is released in a person's sweat, urine, and breath, it causes the strong odor characteristic of trimethylaminuria. Researchers believe that stress and diet also play a role in triggering symptoms.

Although FMO3 mutations account for most known cases of trimethylaminuria, some cases are caused by other factors. A fish-like body odor could result from an excess of certain proteins in the diet or from an increase in bacteria that normally break down trimethylamine in the digestive system. A few cases of the disorder have been identified in adults with liver damage caused by hepatitis. Temporary symptoms of trimethylaminuria have also been reported in a small number of premature infants and in some healthy women at the start of menstruation.

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Dear Mary
From Spectator, The, 3/19/05 by Killen, Mary

Q. May I humbly correct the advice you gave about the life-long friend who has developed an 'unfortunate strain of body odour"? She is suffering from trimethylaminuria, a rare metabolic defect which causes a fish-like smell due to abnormal breakdown of choline. Simple blood and urine tests are available to confirm the diagnosis, often triggered by a fishy meal. Appropriate dietary modification can cure the problem.

M.A.M. (consultant nephrologist), London Wl

A. Despite the fact that my correspondent of 4 March gave no indication of the body odour in question being 'fish-like', readers will join me in being delighted by your learned advice. Knowledge that this condition exists provides an invaluable opening gambit for tackling the tricky topic when offensive smells are being given off, e.g. 'Good Lord! There's a faint smell of fish from you - no, no, no, it's not offensive - it's rather pleasant. But could it be that rare disease trimethylaminuria?! Perhaps you should have a blood test. '

Q. At a party I was giving my neighbour - a local lady professor of fine arts - observing that I needed to lose a few pounds, kindly gave me 12 sessions at the local hotel fitness centre (swimming pool, sauna, weights room etc). There is an open men's changing room like an old-fashioned public school one, but with one cubicle. Could you possibly tell me what the etiquette is as regards changing for men? I have noticed that the older and flabbier the man, the less likely he is to use the cubicle, and the more likely he is to be quite happy about his nudity. There are lockers, but in a private club should one lock up one's clothes or hang them on the open hooks?

H.A., Oxford

A. Many male members of private dubs are only too pleased not to have to go about coyly holding towels over their trouble spots as is expected in public swimming pool changing rooms and the like. 'The whole point of a club,' says one, 'is that you don't have to worry about putting your stuff in lockers and you don't have to worry about being naked.' Indeed it has been widely observed that the greater the pendulosities - including 'man breasts' - the more brazen the displays of these body parts. Brazenness is not compulsory, however, and the strutting peacocks will barely notice if you slip discreetly into the only cubicle.

Q. I have recently returned from a hiking holiday in La Palma where I stayed with two elderly vulcanologists. Everything went well until I had to share a lunchtime picnic of smoked Serrano ham, when the male vulcanologist became petulant and accused me of taking more than my fair share. I was taken aback by his impersonation of a caveman. How can this problem be avoided in the future?

G.W., Wilts

A. It is well known that male territorialism comes to the fore at barbecues, bonfires and picnics. Males do not like sharing from communal piles of food. The problem of clashing antlers can be avoided if each male is presented with a separately packed and labelled picnic. In future the female vulcanologist should ensure that this provision has been made.

Copyright Spectator Mar 19, 2005
Provided by ProQuest Information and Learning Company. All rights Reserved

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