Severe primary trimethylaminuria

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ORPHA:468726OMIM:602079E88.8
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Overview

Severe primary trimethylaminuria, also known as "fish odor syndrome" or "fish malodor syndrome," is a rare metabolic condition where the body cannot properly break down a chemical called trimethylamine (TMA). TMA is produced in the gut when you digest certain foods, especially those rich in choline, carnitine, and lecithin — such as eggs, fish, liver, and some legumes. Normally, an enzyme in the liver called flavin-containing monooxygenase 3 (FMO3) converts TMA into an odorless form. In people with severe primary trimethylaminuria, this enzyme is missing or works very poorly due to genetic mutations, so TMA builds up in the body and is released through sweat, breath, urine, and other body fluids. This causes a strong, unpleasant body odor often described as smelling like rotting fish. The condition itself does not cause physical pain or organ damage, but the persistent odor can have a devastating impact on a person's emotional well-being, social life, relationships, and mental health. Many people with this condition experience depression, anxiety, social isolation, and low self-esteem. There is currently no cure for severe primary trimethylaminuria. Treatment focuses on managing the odor through strict dietary changes — mainly avoiding foods high in choline and TMA precursors — along with other strategies such as using low-pH soaps, taking certain supplements like activated charcoal or riboflavin (vitamin B2), and sometimes short courses of antibiotics to reduce gut bacteria that produce TMA.

Also known as:

Key symptoms:

Strong fish-like body odorUnpleasant smell in sweatBad-smelling breathFoul-smelling urineOdor that worsens after eating certain foodsOdor that worsens during exercise or stressOdor that may worsen during menstruation in womenDepressionAnxietySocial withdrawal and isolationLow self-esteemDifficulty maintaining relationshipsProblems at school or work due to odor

Clinical phenotype terms (10)— hover any for plain English
Fish odorHP:0410020TrimethylaminuriaHP:0003614Dysregulated negative emotional stateHP:0031467Low self-esteemHP:0031469Obsessive-compulsive traitHP:0008770ParanoiaHP:0011999
Inheritance

Autosomal recessive

Passed on when both parents carry the same gene change; often skips generations

Age of Onset

Variable

Can begin at different ages, from infancy through adulthood

Orphanet ↗OMIM ↗NORD ↗

Treatments

No FDA-approved treatments are currently listed for Severe primary trimethylaminuria.

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No actively recruiting trials found for Severe primary trimethylaminuria at this time.

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No specialists are currently listed for Severe primary trimethylaminuria.

View NORD Rare Disease Centers ↗Undiagnosed Disease Network ↗

Treatment Centers

8 centers
🏥 NORD

Baylor College of Medicine Rare Disease Center

Baylor College of Medicine

📍 Houston, TX

🏥 NORD

Stanford Medicine Rare Disease Center

Stanford Medicine

📍 Stanford, CA

🔬 UDN

NIH Clinical Center Undiagnosed Diseases Program

National Institutes of Health

📍 Bethesda, MD

🔬 UDN

UCLA UDN Clinical Site

UCLA Health

📍 Los Angeles, CA

🔬 UDN

Baylor College of Medicine UDN Clinical Site

Baylor College of Medicine

📍 Houston, TX

🔬 UDN

Harvard/MGH UDN Clinical Site

Massachusetts General Hospital

📍 Boston, MA

🏥 NORD

Mayo Clinic Center for Individualized Medicine

Mayo Clinic

📍 Rochester, MN

👤 Mayo Clinic Center for Individualized Medicine

🏥 NORD

UCLA Rare Disease Day Program

UCLA Health

📍 Los Angeles, CA

Travel Grants

No travel grants are currently matched to Severe primary trimethylaminuria.

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Community

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Caregiver Resources

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Questions for your doctor

Bring these to your next appointment

  • Q1.How severe is my (or my child's) FMO3 enzyme deficiency based on genetic testing results?,Can you refer me to a dietitian who has experience with trimethylaminuria?,What specific foods should I avoid, and how can I make sure I still get proper nutrition?,Are there any supplements like riboflavin or activated charcoal that might help reduce the odor?,Would a short course of antibiotics be appropriate to help manage the odor?,Can you recommend mental health support or a counselor familiar with chronic odor conditions?,Are there any clinical trials or new treatments being studied for this condition?

Common questions about Severe primary trimethylaminuria

What is Severe primary trimethylaminuria?

Severe primary trimethylaminuria, also known as "fish odor syndrome" or "fish malodor syndrome," is a rare metabolic condition where the body cannot properly break down a chemical called trimethylamine (TMA). TMA is produced in the gut when you digest certain foods, especially those rich in choline, carnitine, and lecithin — such as eggs, fish, liver, and some legumes. Normally, an enzyme in the liver called flavin-containing monooxygenase 3 (FMO3) converts TMA into an odorless form. In people with severe primary trimethylaminuria, this enzyme is missing or works very poorly due to genetic mut

How is Severe primary trimethylaminuria inherited?

Severe primary trimethylaminuria follows a autosomal recessive inheritance pattern. Genetic counseling can help families understand recurrence risk and testing options.