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Last update 08 May 2025

Trimethylaminuria

Last update 08 May 2025

Basic Info

Synonyms

FISH-ODOR SYNDROME, Fish malodor syndrome, Fish odor syndrome

+ [16]

Introduction

Increased concentration of trimethylamine in the urine. [https://orcid.org/0000-0002-0736-9199]

Drugs associated with Trimethylaminuria

TST-004

Target

MASP2

Mechanism

MASP2 inhibitors

Active Org.

Transcenta Therapeutics Co., Limited

Originator Org.

Suzhou Transcenta Therapeutics Co., Ltd.

Active Indication

Glomerulonephritis, IGA [+2]

Inactive Indication-

Drug Highest PhasePhase 1

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

WS019

Target-

Mechanism-

Active Org.

Waterstone Pharmaceuticals (Wuhan) Co., Ltd. [+1]

Originator Org.

Waterstone Pharmaceuticals (Wuhan) Co., Ltd.

Active Indication

Trimethylaminuria

Inactive Indication-

Drug Highest PhaseIND Application

First Approval Ctry. / Loc.-

First Approval Date20 Jan 1800

Clinical Trials associated with Trimethylaminuria

NCT04473404

/ CompletedNot Applicable

Evaluation of the Effect of an Oral Probiotic on Oral Bacteria and Malodor

The purpose of this study is to evaluate the effects of consuming a probiotic on salivary, plaque, and tongue bacteria, as well as oral malodor (bad breath). Healthy volunteers will consume a probiotic powder, or a placebo powder, that is dissolved in water for 4 weeks.

Start Date20 Jul 2020

Sponsor / Collaborator

Dose Biosystems Inc.

NL-OMON44360

/ CompletedNot Applicable

Exploration of the modulation of skin microbiota and odor components by introduction of stress in healthy male subjects. - MOIST

Start Date31 Oct 2017

Sponsor / Collaborator

Procter & Gamble Co.

ChiCTR-ROC-17011595

/ SuspendedNot ApplicableIIT

Relationship between genetic polymorphism and susceptibility to trimethylaminuria

Start Date30 Jun 2017

Sponsor / Collaborator

Xiangya Hospital Central South University

100 Clinical Results associated with Trimethylaminuria

100 Translational Medicine associated with Trimethylaminuria

0 Patents (Medical) associated with Trimethylaminuria

235

Literatures (Medical) associated with Trimethylaminuria

01 Mar 2025·Veterinary Medicine and Science

A Spotlight on Archaea in Humans, Livestock and Poultry: A Review

Review

Author: Abd El‐Ghany, Wafaa A. ; Salahi, Ahmad

ABSTRACTThe microbiota includes prokaryotes (archaea and bacteria) and eukaryotes. Archaea are single‐celled prokaryotes and essential part of gut microbiome. Researches on archaea in ruminants and humans are more than mono‐gastric. The low abundance of archaea in the gut depends on the method used (metagenomics or meta‐transcriptomic) and age of people or poultry. The lack of complete recognition of archaea is due to their small number and method of identifying them (16S rRNA gene primers). The uses of archaea include analytical kit, reduce oil pollution, archaeosomes or drugs production, vaccines agents, lipid carriers in the pharmaceutical industry and molybdenum extraction in the nuclear industry. The nutritional functions of methanogenic archaea including feed utilization (ruminants) and efficiency, hydrogen reducing (human), fat deposition and enhancement of energy harvesting in mice, CAZymes genes, cecal fermentation, syntrophic potential, carotenoid source and improved transit time and appetite and SCFAs production. Archaea acting as antibiotics (produce archaeocins, sulfolobicins and halocin KPS1) and as probiotics (archaeobiotics) can reduce TMAU (trimethylaminuria) disease, cardiovascular diseases (CVDs), and atherosclerosis, brain abscess, cancer, colorectal cancer, inflammatory bowel disease (IBD), constipation, obesity, food allergies, asthma and anti‐inflammation which can be prevented by using archaea, and other functions include energy homeostasis, heat shock protein (HSP) production and reducing aging.

01 Mar 2025·JIMD Reports

Diagnosis of Primary Trimethylaminuria in an Affected Patient With a Rare Genotype in Sub‐Saharan Africa

Article

Author: Perumal, M. ; van der Sluis, R. ; Davoren, E. ; Mason, S. ; Dercksen, M. ; Murry‐Maritz, C. ; Reed, D. R.

ABSTRACTPrimary trimethylaminuria (TMAU) is characterized by systemic accumulation of trimethylamine (TMA) due to the deficient activity of flavin‐containing monooxygenase 3 (FMO3). The disorder does not have detrimental pathophysiological consequences, but patients develop psychological symptoms due to the emotionally debilitating bodily odor defined as decaying fish that affects their quality of life. Here, we illustrate the utility of a diagnostic workup on an adolescent with primary TMAU, including biochemical and genetic investigations that confirm the diagnosis. A direct substrate (TMA) loading protocol was used, followed by the collection of urine samples at predetermined intervals. The conversion of TMA to trimethylamine oxide (TMAO), monitored by 1H‐NMR spectrometry, showed a compromised FMO3 metabolic capacity at baseline, becoming more pronounced after loading commenced. The eight coding exons of the FMO3 gene were Sanger sequenced, revealing a homozygous missense variant, c.23T>C (p.Ile8Thr), as well as two known homozygous variants, c.472G>A (p.Glu158Lys) and c.923A>G (pGlu308Gly), associated with no to mild presentation of TMAU. The advantage of direct substrate‐to‐product monitoring is the elimination of alternative contributors to the odor that would result in the diagnosis of secondary TMAU. The combined functional and genetic approach provided adequate evidence to describe the first primary TMAU patient reported in sub‐Saharan Africa with a genotype not yet described in a homozygous state. Our findings motivate a comprehensive biochemical and genetic approach to discriminate between primary and secondary TMAU. Subsequently, this targeted approach can provide advice on therapeutic management for optimal emotional well‐being.

19 Feb 2025·Cureus

Unpleasant Smell: A Case Report of Trimethylaminuria (Fish Odour Syndrome) in a Child

Article

Author: Sobreira, Inês ; Resende, Maria M ; Campos, Patricia ; Garcia, Paula ; Leite-Almeida, Laura

We report a case of trimethylaminuria, also known as fish odour syndrome, in a child. This rare autosomal recessive metabolic disorder is caused by homozygous or compound heterozygous mutations in the FMO3 gene, which encodes the protein flavin-containing monooxygenase 3 (FMO3). The impaired function of this enzyme results in the accumulation of trimethylamine (TMA), a volatile, odouriferous compound excreted in the breath and bodily fluids that emits the characteristic odour of rotting fish. A previously healthy three-year-old boy began exhibiting a rotting fish-like body odour at 10 months of age after consuming swordfish. Subsequent episodes occurred with the ingestion of other types of fish. A fish-free diet temporarily resolved the odour, but symptoms recurred when fish was reintroduced. The child's growth and neurodevelopment were normal, and no abnormalities were detected during physical evaluation. Genetic testing revealed heterozygous variants in the FMO3 gene, including the intronic variant c.627+10C>G and the polymorphism c.472G>A (p.Glu158Lys), which, in combination, had the potential to cause moderate or transient symptoms. Dietary management with gradual fish reintroduction and hygiene measures were implemented. By 19 months of age, the child was consuming the recommended portions of fish without recurrence of the odour or any other symptoms. This case illustrates a transient form of trimethylaminuria, likely resulting from a combination of identified genetic variants and the FMO3 enzymatic immaturity typical in early childhood. Awareness of this condition is essential for prompt diagnosis and effective management. Dietary and hygiene strategies can effectively alleviate symptoms and improve quality of life. This case also underscores the potential spectrum of trimethylaminuria phenotypes and the value of personalised management strategies.

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Trimethylaminuria

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