Related Experiment Video
Updated: Jul 17, 2026
An Improved Technique for Trimethylamine Detection in Animal-Derived Medicine by Headspace Gas Chromatography-Tandem Quadrupole Mass Spectrometry
Published on: March 10, 2023
Trimethylaminuria (fish-odor syndrome): a case report
Gehan Arseculeratne1, Alvin K C Wong, David R Goudie
1Photobiology Unit, Department of Dermatology, Ninewells Hospital and Medical School, Dundee, Scotland. gehan.arseculeratne@tuht.scot.nhs.uk
Background:
Trimethylaminuria (fish-odor syndrome) is a rare metabolic disorder characterized by a body malodor similar to that of decaying fish. The condition results from mutations affecting the flavin-containing monooxygenase 3 (FMO3) gene. Affected individuals may exhibit a variety of psychosocial phenomena. A high index of suspicion for this disorder needs to be maintained when treating individuals presenting with a history of real or perceived body odor. Observation We evaluated a 41-year-old man who presented with a long medical history of a fishy body odor. Results from biochemical investigations confirmed a diagnosis of primary trimethylaminuria, and results of molecular genetic studies revealed homozygosity for a mutation on exon 4 of the FMO3 gene, FMO3/P153L (c.458C --> T). The patient found that information he subsequently obtained about his condition on the Internet and discussion with friends and family members to be the most useful therapeutic approach.
Conclusions:
Trimethylaminuria is a rare metabolic disorder. Psychological accompaniments are recognized as major sources of distress to affected individuals. We discuss the features of this syndrome and highlight the importance of counseling and support in the treatment of such patients.
Insights
Trimethylaminuria, or fish-odor syndrome, is a rare metabolic disorder caused by FMO3 gene mutations. Patient education and social support are key to managing this condition and its psychological effects.
Area of Science:
- Metabolic disorders
- Human genetics
- Biochemistry
Background:
- Trimethylaminuria, also known as fish-odor syndrome, is a rare metabolic disorder.
- It is characterized by a distinct fishy body odor and results from mutations in the flavin-containing monooxygenase 3 (FMO3) gene.
- Psychosocial issues are common in affected individuals, necessitating a high index of suspicion in clinical practice.
Observation:
- A case study of a 41-year-old man with a lifelong history of fishy body odor was evaluated.
- Biochemical tests confirmed primary trimethylaminuria.
- Genetic analysis identified homozygosity for the FMO3/P153L mutation (c.458C --> T) in exon 4.
Findings:
- The patient's diagnosis of primary trimethylaminuria was confirmed through biochemical and genetic testing.
- A specific mutation, FMO3/P153L, was identified as the cause in this case.
- The patient reported that online information and discussions with his social network were the most effective therapeutic strategies.
Implications:
- Trimethylaminuria is a rare condition with significant psychological impact on patients.
- Counseling and social support are crucial components in managing the distress associated with this syndrome.
- Understanding the genetic basis and psychosocial aspects is vital for comprehensive patient care.
Related Concept Videos
01:26Physical Properties of Amines
01:30Urinary Tract Infection III: Diagnostic Studies and Interprofessional Care
01:202° Amines to N-Nitrosamines: Reaction with NaNO2
01:23Urea Cycle