Trimethylaminuria, the stigmatizing fish odor syndrome

2023-06-06 07:57:45

Trimethylaminuria consists of a metabolic deficit through which the person releases a substance, trimethylamine (TMA), through their skin, sweat and, in general, all their organic fluids that have an unpleasant odor and are reminiscent, among others, to fish Consequently, patients who suffer from it live with a stigma that is difficult to overcome.

The so-called fish odor syndrome is a rare disease, of which its incidence in Spain is unknown. What does seem a fact is the underdiagnosis that exists, as explained to EFEsalud the pediatrician of the Gastronterology, Hepatology and Nutrition service of the Sant Joan de Déu Hospital in Barcelona, beatriz minguez.

It is a metabolic pathology generated by a defect in a liver enzyme, flavinmonooxygenase 3 (FMO3). The consequence is that compounds such as trimethylamine, which is produced in the intestine when eating certain foods such as fish, shellfish, legumes or eggs, cannot be broken down.

The body releases this excess in bodily secretions such as sweat, urine or breath with a characteristic fishy smell, although it is not just that smell, as explained by the pediatrician, who assures that, so far, there are no other described physical consequences and does not endanger the lives of patients.

fishy odor syndrome usually appears in babies They have that defect in the enzyme when the fish is introduced into complementary feeding. “Normally what parents tell you is that when the baby eats fish, their hair smells like fish that day,” says Mínguez.

The problem is that since it is a defect in an enzyme, it is present throughout life, it does not disappear, except in some cases in babies where it occurs temporarily.

No treatment

There is no treatment. The only solution so far to mitigate this syndrome is to eliminate from the diet foods that are rich in choline, which is a precursor, and in trimethylamine. They are about the fish, shellfish, legumes, the egg y some vegetablescontinues the pediatrician at Sant Joan de Déu.

“What you do is stop them from making as much trimethylamine. There are patients who do not require a diet, others only remove the fish, but sometimes there are people who, even if they follow a strict diet, smell a lot, since there are different degrees of this pathology”. says the doctor.

The desperate patients

Fish odor syndrome causes a strong psychological impact in patients, who are “really desperate.” “What they say is that they have been fired from work or that they have been told things on the street. They don’t want to leave the house. They suffer a lot of social isolation and rejection by the population,” says Mínguez.

EFE

In the case of minors, parents are also very afraid that their children will be socially rejected. At this point, the pediatrician stresses that if they strictly follow the diet from a young age, they usually reach puberty with the syndrome “fairly controlled”.

In fact, patients ask that instead of being called fish odor syndrome, it be called Tmau (trimethylaminuria) since it is not just fish odor, there are many others.

Christina’s ordeal

Christina is 36 years old. Her life has been an ordeal since she was little, when at her school her classmates made disgusting faces at her, cornered her and beat her, according to what she herself told EFEsalud.

“Every day for 8 years they have been harassing me, humiliating me, yelling through the corridors for me to shower, laughing or avoiding touching me so as not to be ‘infected’. In 8 years I could not speak because they answered everything ‘take a shower!’, says the woman.

Even the teachers asked her to improve her hygiene, unaware that what Cristina suffered from was trimethylaminuria, in fact, not even she knew.

He showered several times a day and watched as his mother washed clothes by hand with disinfectants. Her parents didn’t smell anything.

He studied for a degree outside the island where he lives and was able to be happy because he did not find that rejection, almost no one noticed his smell. But he had to come back.

She had always liked dance and theater. She tried in those areas, but he couldn’t be happy either. The classmates at the dance school rejected her and at the drama school, people didn’t want to work with her because of her smell.

She managed to get out of a depression on her own. She has never had friends or partners. “Sometimes I wonder what I have done because I feel like a criminal since I was born, and no one answers my repeated question about why this harassment because of a smell that turns out to be a disease that I did not want to have,” laments Cristina.

The Asociation

In 2017, she asked a nutritionist to test her for trimethylaminuria, which she tested positive for. He already had a name for his illness.

Some time later he met Dr. Mínguez and a series of people and all together they have managed to create an association for patients with fish odor syndrome.

“Really giving voice to a disease that seems so ‘harmless’ and actually destroys lives in such a monstrous way can help make us understand,” says Cristina.

The association wants, among other things, to communicate to the health authorities that these patients may have access to legal procedures and lawyers who can protect them in case of incitement to hatred for their illness.

“It is very important to make the population aware of what we have, which is not a lack of hygiene but a metabolic disease. We only ask for respect”, emphasizes Cristina, who barely leaves the house.

The association also works with Dr. Mínguez to study possible effective solutions to the syndrome.

A fragrance, hope

There is not much research in this regard and although there is no treatment, the Sant Joan de Déu Hospital has collaborated with Eurofragance to develop fragrances that neutralize the fishy odor of patients.

So far, they have managed to create cologne water, serum and creamwhich has worked with several patients and is currently undergoing a clinical trial to assess its effectiveness.

The daily routine, Eurofragance explains, consists of applying serum and lotion after showering, which can be reinforced with eau de cologne. Both the serum and the lotion can also be reapplied if necessary.

Eurofragance ensures that it has tested the raw materials “methodically one by one” in search of a longer duration of the fragrance on the skin to achieve greater efficacy.

The lotion is a standard foundation, while the serum was created specifically for this project using ingredients suitable for children’s sensitive skin types, explains Eurofragance. Therefore, now the intention is that these products can be available outside the hospital together with MartiDerm.