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:
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.
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