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Trimethylaminuria, the fishy odor syndrome

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Trimethylaminuria is a disease characterized by a metabolic disorder that causes people who suffer from it to emit an unpleasant odor similar to that given off by rotten fish.

Written by:

Adrian Cordellat

Journalist specialized in maternity, education and health

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Updated: May 11, 2020

Fish odor syndrome, also known in medical jargon as trimethylaminuria (TMAU), is a genetic metabolic disorder that causes the enzymatic mechanism that it should remove trimethylamine, a by-product of prior bacterial breakdown of amino acids such as choline. In the absence of degradation, trimethylamine accumulates in the body of patients and ends up being released through urine, breath, sweat and, in the case of women, vaginal fluids. This accumulation and subsequent release causes affected people to emit a rather unpleasant body odor, which has been compared to that of rotten fish, hence the name of the syndrome.

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Trimethylaminuria, the fishy odor syndrome

This rare disease usually manifests itself in its first symptoms during childhood, although the lack of knowledge that still persists today among medical personnel about the syndrome causes the diagnosis to be delayed for years. This delay does not endanger the lives of patients, since high levels of trimethylamine in the body are not toxic, but we are talking about a disease that affects people who suffer from it at a psychological and social level, who may be victims of social rejection due to their smell and present low self-esteem, depression, social isolation and even suicidal tendencies.

Fish odor syndrome has a very low incidence, which is estimated, according to various sources, between one case every 40,000 people and one case every 200,000 people. The difference in figures may be due to the greater knowledge that now exists about this disease, which would have increased the number of diagnosed patients. However, as we say, they are only estimates, since there is currently no patient registry.

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The first case of fish odor syndrome was described in the prestigious scientific journal The Lancet in 1970, although in the literature –since William Shakespeare in his play 'The Tempest', performed for the first time in 1611 – There are already references to people who, based on the description made in the text, could suffer from the symptoms of TMAU.

Trimethylaminuria is a disease without treatment

Currently, and while we wait for the development of gene therapy, which could mean a before and after for those affected by this disease, there is no specific treatment for fish odor syndrome, so that patients only have very limited therapeutic alternatives available to them, which, in the vast majority of cases, involve actions more typical of the daily routine.

Thus, one of the recommendations for those affected by this problem to try to mitigate the fishy smell as much as possible is to reduce the intake of products rich in amino acids such as choline or carnitine, as well as those with a high concentration of sulfur or nitrogen, which tend to increase body odor. We are talking about foods such as egg whites, oily fish, shellfish, offal products, legumes, or meat.

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Experts in this syndrome also recommend showering at least twice a day with gels with a pH between 5.5 and 6.5, which is more acidic than the neutral pH we usually use. Also change your underwear after each wash, and use neutral and odorless deodorants so as not to cause a mixture of odors that can be even more unpleasant.

When the aforementioned alternatives show little efficacy, to combat trimethylaminuria there is also the option of prescribing antibiotics such as metronidazole and neomycin in a timely manner and in small doses (due to their side effects), which eliminate intestinal bacterial flora , key in the processing of choline. By removing it, you also get rid of trimethylamine, which leads to a reduction in bad odors. And the use of medications should only be resorted to if the doctor considers it appropriate, and under his control.

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Created: October 9, 2017

Tags:
Endocrine system
Genetics
Rare diseases
Aesthetic conditions

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