TRIMETHYLAMINURIA

Fish odor syndrome

A man or a fish? Dead or alive? A fish; he smells like a fish;

William Shakespere decribed it in Tempest

SYMPTOMS
Unpleasant or fishy body odor
Bad breath
Overtly smelly sweat
CAUSES
Primary cause: A genetic disorder caused by
genetic mutation of the FMO3 gene inherited
an autosomal recessive
Secondary causes: Liver and kidney disease

Metabolic pathway: The breaking

down of dietary precursors like
choline into odorless
trimethylamine N-oxide (TMAO) is
disrupted due to enzyme
deficiency of the FMO3 enzyme in
the liver, As a result, a smelly
compound Trimethylamine (TMA)
is released in sweat breath and
urine.

DIAGNOSIS:
-Urine test to measure the ratio
of trimethylamine N-oxide to
trimethylamine in the urine.
-Genetic testing
Affect on other metabolic
systems:
Psychosocial: depression, low
self-esteem, mood issues
Decreased FMO3 function
may affect blood pressure
and drug metabolism eg Sulfa
TREATMENT
Reduce the intake of foods rich in choline and TMA
precursors such as fish, eggs and beans.
Use soaps with pH 5.5 to wash, as TMA is a base
Antibiotics can be prescribed to reduce TMA-
producing bacteria in the gut
Activated charcoal or copper Chlorophyllin-3 week
course to reduce free TMA in urine,
Frequently bathing to help reduce odor
Take Vit B12 to enhance residual FMO3 activity

SUPPORT GROUPS
1. RareConnect: global online platform that connects
people living with rare diseases like TMAU.
https://www.rareconnect.org/en/community/trimeth
ylaminuria/members
2. Genetic and Rare Diseases Information Center
(GARD): provides information about rare diseases,
like TMAU, https://rarediseases.info.nih.gov/

Sources:
Li, M., Al-Sarraf, A., Sinclair, G., & Frohlich, J. (2011). Fish odour syndrome. Canadian Medical Association
Journal, 183(8), 929–931. https://doi.org/10.1503/cmaj.100642
Messenger, J. (2013). A Review of Trimethylaminuria: (Fish Odor Syndrome), 6(11), 45–48.
https://doi.org/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3848652
Mackay, R. (2011). Trimethylaminuria: Causes and Diagnosis of a Socially Distressing Condition. Clinical
Biochem Rev, 32(1), 33–43. https://doi.org/https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3052392/

Shaunak Dogra