Trimethylaminuria is a condition whose colloquial name can even arouse laughter - it is referred to as the fish odor syndrome. A characteristic symptom of this unit is the unusual smell of sweat or urine of patients - it resembles the smell emitted by fish. What are the causes of trimethylaminuria and what is the treatment of this atypical entity based on?

Trimethylaminuria(ang. Trimethylaminuria) otherwisefish odor syndromeis a condition that was first described only in 1970, however, reports on this particular unit most likely appeared in the literature much earlier. In the past, stories of people who gave off an unpleasant, specific smell have been described many times, and it was not the smell resulting from insufficient personal hygiene, but the smell resembling … a fishy odor. This problem is also the source of the common name of the disease, which is the fish odor syndrome.

Trimethylaminuria is a disease with which patients are born, the symptoms of the disease may, however, appear in them both shortly after birth and only later in life (e.g. during adolescence). For unknown reasons, the fish odor syndrome is more often found in women than in men.

Trimethylaminuria (fishy smell): causes

The primary problem associated with trimethylaminuria is deficiency of the enzyme FMO3 (flavin containing monooxygenase 3). This enzyme is involved in the transformation of trimethylamine to trimethylamine oxide - in a situation where such transformations do not take place, trimethylamine is excreted from the body, e.g. with urine and sweat.

What, however, leads to shortages of FMO3? Well, first of all, mutations of genes encoding FMO3. The disease is inherited in an autosomal recessive manner, which means that in order to get the disease it is necessary to inherit the abnormal genes from both parents.

Mutations are the root cause of trimethylaminuria, but it turns out that they are not the only one. Well, there are reports that the symptoms of the fish smell syndrome may appear in people who are devoid of the mutation, but in which the intestines are produced in large amounts by the bacteria that live there.trimethylamine. It is also noted that eating particularly large amounts of foods that are a source of trimethylamine may also be a possible cause of an unusual fishy smell in some people.

Trimethylaminuria (fishy smell): symptoms

The main problem associated with trimethylaminuria is an extremely unpleasant, fish-like smell - sweat or urine of patients with fish odor can smell this way, in addition, the unpleasant smell also comes out of their mouths. This phenomenon is caused by the presence of trimethylamine in the aforementioned fluids - a compound that is not metabolized properly in patients with trimethylaminuria.

The symptoms of trimethylaminuria vary in intensity - sometimes the specific smell is stronger, sometimes less noticeable. The intensity of the ailments depends, for example, on the degree of genetic disorders (carriers of one mutant gene may not experience any symptoms, and if any appear in them, they are usually much less severe than in those patients who have two mutated alleles of the gene encoding the FMO3 enzyme) .

It is also noticeable that the symptoms of fish odor syndrome increase their intensity at certain times of life - we are talking here about entering puberty, menstrual bleeding or menopause.

Trimethylaminuria (fishy smell): diagnosis

The suspicion of trimethylaminuria can only be brought about by the specific smell that the patient smells - however, such a statement is not sufficient to make a reliable diagnosis of this disease. In the diagnosis of the disease, the following treatments are performed: test to evaluate the ratio of trimethylamine to trimethylamine oxide in urine.

It should be emphasized, however, that sometimes this test gives false-positive results - among the conditions in which it is possible to find abnormalities characteristic for the fish odor syndrome, where the patient does not suffer from this unit at the same time, the following are mentioned:

  • urinary tract infections
  • bacterial vaginosis
  • cervical cancer
  • advanced, severely impaired liver or kidney function

The above-mentioned test is a screening test - the final confirmation of trimethylaminuria can be obtained thanks to genetic tests and detection of mutations characteristic for this unit.

Trimethylaminuria (fishy smell): treatment

Currently, there are no methods of causal treatment of trimethylaminuria - there are no drugs that would free patients from their disease. People udiagnosed with fish odor syndrome may have concerns about how they will function with other people - whether they will be able to start a family, or whether they will have to reckon with the possibility of being completely rejected by other people.

Despite the lack of drugs for trimethylaminuria, patients with this disease are able to lead a normal, happy life - to achieve this, they should simply follow certain recommendations.

First of all, they concern their diet - patients should avoid foods that are sources of trimethylamine, such as, for example :

  • legumes
  • red meat
  • fish
  • eggs

When bathing, they are recommended to use acidic agents, i.e. with a pH of 5.5 to 6.5.

Trimethylamine can be formed in the gastrointestinal tract with the participation of bacterial microorganisms, therefore patients are sometimes recommended to use small doses of antibiotics - such an effect reduces the amount of microorganisms in the intestines and it can also reduce the intensity of unpleasant odors.

Patients may also try to avoid extremely intense physical exertion - the more they sweat, the more intense the smell that comes from them.

Trimethylaminuria (fishy smell): prognosis

Just as trimethylaminuria - in the absence of compliance by the patient with medical recommendations - can certainly hinder the patient's daily functioning, it should be emphasized so strongly that the prognosis of patients with this unit is simply good.

Fish odor syndrome does not shorten the life expectancy of patients, moreover, it does not lead to any complications in patients.

About the authorBow. Tomasz NęckiA graduate of the medical faculty at the Medical University of Poznań. An admirer of the Polish sea (most willingly strolling along its shores with headphones in his ears), cats and books. In working with patients, he focuses on always listening to them and spending as much time as they need.

Category:

Genetic diseases