Trimethylaminuria (Fish odor syndrome): Etiopathophysiological bases of clinical manifestations and treatment and nursing modalities.

 

Mr. Ananda Kudari*

Associate Professor, Department of Medical Surgical Nursing, SDM Institute of Nursing Sciences, Sattur, Dharwad, 580009, Karnataka, India

*Corresponding Author’s Email: anandakudari@yahoo.co.in

 

ABSTRACT:

Have you seen someone is emitting fishy odor or smell through his/her mouth or body secretions? Yes, it is possible in condition called as fish odor syndrome or trimethylamnuria. It is one of the metabolic, genetic disorder in which the body is unable to breakdown trimethyalmine (strong smelling chemical) which is produced by micro enterobacteria in an intestine during digestion of protein in to trimethylamine oxide (odor less chemical) which results in accumulation of trimethylamine in all body secretions and results in fishy odor in mouth, sweat, vagina and in urine. This type of disease mainly caused by mutation of gene called as Flavin- containing monooxygenase 3 (FMO3) and also resulted by eating choline or nitrogen containing foods such as eggs, liver, legumes, soybeans, peas, pea nuts, certain kind of fish, broccoli, cabbage, tomato, potato and other foods. Finally accumulation of trimethylamine in body secretions which results in giving off fishy odor. This condition is diagnosed by urine test, trimethylamine load test and gene testing. We can treat this disease by medical and nursing modalities such as use of antibiotics, diet control, nursing counseling, maintaining personal hygiene, use of active charcoal, taking laxatives, music therapy psychotherapy, use of copper and riboflavin supplements.

 

KEYWORDS: Trimethylaminuria, choline, fishy odor, nursing, counseling, music, riboflavin, gene testing.

 

 


INTRODUCTION:

Whenever you are talking to someone or yawning, imagine emitting a strong fish smell or odor through mouth and also emitted when sweating or voiding. This type of rare metabolic inherited autosomal recessive disease called as Trimethylaminuria or fish odor syndrome or fish malodor syndrome or stale fish syndrome which is caused by defect in the normal production of flavin enzyme FMO3[1, 2] and is more common in women than in men because scientists suspect that female sex hormones called as estrogen and progesterone can aggravate symptoms[3].

 

The condition worsens around puberty, before and during menstrual periods, after taking oral contraceptives, and around menopause. The individual with this type of syndrome are advised to avoid food containing trimethylamine such as soy product, legume, egg, liver, kidney, pea, pea nuts, cabbage, sea foods, milk from wheat fed cattle [4].

 

Definition:

Trimethylaminuria is a metabolic or inherited autosomal recessive disorder in which the body is unable to break down trimethylamine in to trimethylamine oxide which results in fish odor in mouth, sweat, reproductive secretions and urine.

 

Incidence:

Incidence is idiopathic. Trimethylaminuria is an uncommon genetic disorder which mostly found in female than in male since estrogen and progesterone hormone can aggravate the symptoms in female [3]. It is estimated that 1% of UK population are carrier of the faulty gene that causes this disease [5].

 

Causes:

·         Inherited in an autosomal recessive pattern [4].

·         Mutation in the FMO3 (flavin containing monooxygenase3) which converts the trimethylamine to trimethylamine N-Oxide [4].

 

Other factors:

·         The strong body odor may result from an excessive of certain protein in the diet or from and abnormal increase in bacteria that produce trimethylamine in the digestive system

·         A few cases identified in adult with liver and kidney disease [6].

·         In female, presence of estrogen and progesterone the symptoms are exacerbated [3]. 

·         Temporary symptoms of this condition have also been identified in small number of premature infants [4].

·         Stress and diet may also play a role in triggering the odor [3].

 

Pathophysiology:

The normal bacterial flora contains enterobacteria in our intestine help us to digest foods such as eggs, liver, legume. Soy, pea, beans and certain seafood. In the process, they produce a strong-smelling chemical called trimethylamine. Usually an enzyme (protein) called as flavin-containing monooxygenase 3 (FMO3) is produced by the liver to turn trimethylamine into the odorless molecule called trimethylamine N-oxide. Most people have an FMO3 gene, which provides instructions for making this enzyme (FMO3). In most people with trimethylaminuria, the FMO3 enzyme is missing or their FMO3 gene doesn't work because of genetic mutation. This allows trimethylamine to build up in the body and trimethylamine will release in a patients sweat, breath, urine, and genitourinary tract results in fishy odor or smell. In some normal conditions excessive intake of certain food containing choline also will causes the fishy odor [7].

 

Clinical manifestations:

·         Person of this condition typically looks healthy

·         Unconverted trimethylamine gets released in sweat, breath, urine, and genitourinary tract giving off a strong fishy odor [7].

·         Some people have a strong odor all the time but most have a moderate smell that varies in intensity over time

·         The condition worsens around puberty, just before and during menstrual periods after taking oral contraceptive and around menopause [4].

·         A symptom seems to be more common in women than in men because estrogen and progesterone aggravate the symptoms [3].

 

Diagnostic evaluations:

Urine test:

Urine test must be done to measure the ratio of trimethylamine to trimethylamine N-oxide (the odorless chemical)

 

Procedure:

Ask the patient to consume a choline tablet orally and collect several urine samples over the 24 hours period the follows. In trimethylaminuria patients, they have higher than normal level of trimethylamine in their urine [8].

 

Trimethylamine load test:

(TMA load test or TMA challenge) for testing carrier

Ask the patients to consume trimethylamine pill and test them how much they passed out in their urine. Carrier pass out 20-30% of trimethylamine in their urine while non-carrier pass less than 13% and converts the rest in to trimethylamine N-Oxide[9]

 

Gene testing:

Gene testing can also be carried out to look for any genetic change in the FMO3.[10]

 

Prevention:

·         There is currently no known effective method of prevention of this disease

·         To reduce the severity of the symptoms the individuals may follow the treatment modalities such as dietary restriction or use of low dose of antibiotics to kill enterobacteria which increases the trimethylamine in the gut

·         Individual can be tested to determine if they are carrier of the disease, although the carrier do not experiences symptoms of the disease and they may pass the disease to their children

·         Anyone with family history if trimethylaminuria or who experiences symptoms of the disorder should be tested

·         To reduce the symptoms an individual must eat healthy foods that are low in choline, sulfur or nitrogen content and they must exercise regularly[11]

 

Medical and Nursing Modalities:

There is currently no cure for trimethylaminuria however it is possible for the people with this condition to live normal, healthy lives by medical and nursing modalities

 

Antibiotics:

Antibiotics may be used to reduce/suppress odor causing bacteria in the gastrointestinal tract Eg: - Neomycin, Amoxicillin, and Metronidazole [11]

However antibiotic treatment has not been effective in all the cases

 

Diet:

The fishy smell can be minimized with special diets which are low in trimethylamine since these patients cannot metabolize trimethylamine and limiting certain foods may reduce the buildup of trimethylamine in the body

 

The following food should be avoid or minimize such as egg, legume, certain meats, fish, and food that contain choline, nitrogen, and sulfur, this may reduce the severity of body odor given off. Food source of choline includes soy, egg yolk, butter, banana, barley, cauliflower, corn, flex seeds, lentils, milk, orange, potato, sesame seeds, tomato, and whole wheat bread and also avoid lecithin and lecithin containing fish oil supplements which contain high levels of choline [11]  

 

Counseling:

Psychological upset or depression in these patients may be treated through behavioral counseling [11]

 

Other treatment:

Hygiene:

Using soap and other personal care product with moderate pH between 5.5 and 6.5 may help mask body odor. This pH range helps to retain secreted trimethylamine in a salt form which has reduced odor and can be removed by washing [11]

 

Activated charcoal:

It is taken by mouth may help suppress odor causing bacterial activity in the gut[11]

 

Laxatives:

Taking laxatives may help prevent odor by decreasing intestinal transit time which reduces the amount of trimethylamine production in the gut [11]

 

Music therapy:

Many different form of music interventions have been used to reduce depression and anxiety in these conditions. [11]

 

Psychotherapy:

This is an interactive process between a person and qualified mental health professional. A broad range of psychotherapies have been shown to be combination with prescription of trimethylaminuria [12]

 

Copper:

Copper is a mineral that occur naturally in many foods including vegetables, nuts, grains, fruits, shellfish, beef, kidney and liver, the use of copper chlorophyllin results in a reduced urinary free trimethylamine concentration and normalization of trimethylamine N-Oxide (60 mg copper chlorphyllin three times a day for 3 weeks) but further research is require to support this treatment. [11]

 

Charcoal: 750 mg of charcoal twice daily for 10 days[11]

 

Riboflavin (Vit B2): This will enhance any FMO3 enzyme activity [11]

 

REFERENCES:

1.        Treacy EP, et al. (1998). "Mutations of the flavin-containing monooxygenase gene (FMO3) cause trimethylaminuria, a defect in detoxication". Human Molecular Genetics 7 (5): 839–45. doi:10.1093/hmg/7.5.839

2.        Mitchell S C, Smith R L (2001). "Trimethylaminuria: the fish malodor syndrome". Drug Metab Dispos 29 (4 Pt 2): 517–21

3.        A review. Available from: URL-https://en.wikipedia.org/wiki/Trimethylaminuria]

4.        National genome research institute; advancing human health through genome research, learning about trimethylaminuria. A review. available from: URL:www.genome.gov/11508983

5.        Trimethylaminuria, fish odor syndrome. A review. Available from. URL: http://www.nhs.uk/Conditions/trimethylaminuria/Pages/Introduction.aspx

6.        Nephrol Dial Transplant (2006) 21: 1300–1304 doi:10.1093/ndt/gfk056,Advance Access publication 9 January 2006

7.        E. P. Treacy, B. R. Akerman, et al.mutation of the flavin containing mono oxygenase gene FMO3causes triamethylaminuria, a defect in detoxication, volume 7, issue 5: pp- 839-845

8.        Brewster, ma, schedewie, h. trimethylaminuria. annals of clin. and lab. science 1983; 13(1): 20-24.

9.        al-Waiz M, Ayesh R, Mitchell S C, Idle J R, Smith R L, Trimethylaminuria: the detection of carriers using a trimethylamine load test. J Inherit Metab Dis. 1989; 12 (1):80-5.

10.      Genetic home reference: your guide to understanding genetic conditions, Trimethylaminuria: Reviewed January 2013 [available from- http://ghr.nlm.nih.gov/condition/trimethylaminuria]

11.     A review. Available from. URL:http://www.wellness.com/reference/conditions/trimethylaminuria/prevention-and-treatment

12.     A review. Available from.URL: https://www.sharecare.com/health/autosomal-recessive-genetic-disorders/what-natural-treatments-trimethylaminuria

 

 

 

 

Received on 04.01.2016          Modified on 16.01.2016

Accepted on 23.02.2016          © A&V Publication all right reserved

Int. J. Adv. Nur. Management. 2016; 4(2): 148-150.

DOI: 10.5958/2454-2652.2016.00033.0