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Updated: Jun 20, 2026
04:19
An Improved Technique for Trimethylamine Detection in Animal-Derived Medicine by Headspace Gas Chromatography-Tandem Quadrupole Mass Spectrometry
Published on: March 10, 2023
[Primary trimethylaminuria: the fish odor syndrome]
Teresa Montoya Alvarez1, Patricia Díaz Guardiola, Juana Olivar Roldán
1Servicio de Endocrinología y Nutrición, Hospital Infanta Elena, Madrid, España. tmonalv@alumni.unav.es
Summary
Primary trimethylaminuria, or fish odor syndrome, is a rare metabolic disorder where the body cannot properly process trimethylamine (TMA). This leads to a fish-like body odor and significant psychosocial distress for affected individuals.
Area of Science:
- Biochemistry
- Genetics
- Metabolic Disorders
Background:
- Primary trimethylaminuria (fish odor syndrome) is a rare genetic metabolic disorder.
- It results from a defect in the hepatic oxidation of trimethylamine (TMA) to trimethylamine N-oxide (TMANO).
- TMA is primarily derived from dietary sources like choline and carnitine.
Observation:
- Patients exhibit elevated levels of TMA in bodily secretions.
- This leads to a distinctive and unpleasant fish-like body odor.
- The condition can cause significant psychosocial challenges for individuals.
Findings:
- The case highlights a failure in the TMA to TMANO metabolic pathway.
- Abnormal TMA accumulation is the key biochemical characteristic.
- The study underscores the clinical presentation of this rare disorder.
Implications:
- Increased awareness of primary trimethylaminuria is crucial for timely diagnosis.
- Understanding the metabolic defect aids in potential management strategies.
- Addressing the psychosocial impact is vital for patient well-being.
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