Living with Severe primary trimethylaminuria
A genetic condition that causes a fishy body odor because the body can't break down a certain chemical.
Understanding Severe primary trimethylaminuria
People with this condition can't break down trimethylamine, a chemical that comes from choline, carnitine and TMAO in certain foods. It builds up and causes the odor. GARD says there are no other physical symptoms, but people may have serious emotional and social distress. Diagnosis uses symptoms, an exam and urine testing, and genetic testing can confirm it.
Signs & symptoms
Symptoms vary from person to person. GARD lists these among the most common:
- Fishy body odor
- Mood swings
- Feeling bad or down
- Low self-esteem
Not everyone has every symptom. GARD's list comes from the Human Phenotype Ontology.
Diagnosis
- 1Talk with your doctor
Share the symptoms you've noticed, when they started and your family health history. Notes and photos can help.
- 2See a specialist
Specialists who may be involved include genetic specialists.
- 3Consider genetic testing
Changes in FMO3 are linked to this condition. Genetic testing and counseling can help confirm a diagnosis and explain what it means for your family.
Care & treatment
- Care team
- Genetic specialists (geneticists)
- Expert care
- Ask about multidisciplinary care centers for rare conditions
- Treatment
- GARD doesn't list specific treatments for this condition. Your care team will tailor care to your symptoms.
- Research
- Clinical trials and observational studies may be options. See the research section below.
General information, not medical advice. Your care team makes the decisions.
Everyday life
Living with a rare condition is easier with support.
- Connect with rare disease patient organizations for support
- Keep notes on symptoms, changes and questions for appointments
- Ask about patient registries that help research
- Look into financial aid and travel resources for care visits
Quick facts
It is caused by an FMO3 gene that is not working correctly. A child inherits a changed copy of the gene from each parent (autosomal recessive).
Also known as: tmau
Patient organizations
Rare-disease groups that can help
- Global GenesRare Diseases · United States
- National Organization for Rare DisordersRare Diseases · United States
- Genetic AllianceRare Diseases · United States
- RARE FoundationRare Diseases · United States
You are more than your diagnosis
Perspectives from people navigating life with Severe primary trimethylaminuria.
Explore research for Severe primary trimethylaminuria
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- Recruiting studies from ClinicalTrials.gov
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- Eligibility is confirmed by the study team
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Powered by HealthSpark, our AI chat helper · Study information from ClinicalTrials.gov · Eligibility is confirmed by the study team.
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