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Trimethylaminuria or fish odor syndrome, what it is and what it should do

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Trimethylaminuria is a disease characterized by a metabolic disorder that causes people who suffer from it to give off 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 should eliminate trimethylamine, a product derived from bacterial degradation, to not start up. prior amino acids such as choline. As degradation does not occur, 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 give off a rather unpleasant body odor, which has been compared to that of rotten fish, hence the name of the syndrome.

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Trimetilaminuria o síndrome del olor a pescado, qué es y a qué se debe

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

The fish odor syndrome has a very low incidence, which is estimated, according to various sources, between one case per 40,000 people and one case per 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 literature –since William Shakespeare in his play 'The Tempest', performed for the first time in 1611– there are already references to people who, due to the description made in the text, could suffer from the symptoms of TMAU.

Trimethylaminuria is a disease without treatment

Currently, and while waiting 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 patients only have their range of very limited therapeutic alternatives that, in the vast majority of cases, go through actions more typical of daily routine.

Thus, one of the recommendations for those affected by this problem to try to mitigate the smell of fish 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 odour. We are talking about foods such as egg whites, oily fish, shellfish, offal products, legumes, or meats.

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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 are more acidic than the neutral pH that we normally 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, which eliminate the intestinal bacterial flora, key in choline processing. By eliminating it, trimethylamine is also eliminated, which leads to a reduction in bad odours. And the use of medication 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 affections

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