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severe primary trimethylaminuria - Clinical Profile, Genes & Research | Kisho | Kisho

Rare Disease

severe primary trimethylaminuria

MONDO:0018767

Also known as:trimethylaminuriaTMAUTMAuria

Find Clinical TrialsTrials

Overview

Any trimethylaminuria in which the cause of the disease is a mutation in the FMO3 gene.

GeneticsAutosomal recessive · FMO3 (chr 1)

Clinical Trials1 registered · 1 recruiting

Clinical Presentation

Built from Human Phenotype Ontology (HPO) phenotype annotations and GeneReviews clinical descriptions. Features represent findings documented across known cases — not an exhaustive list of possible symptoms.

Features include: Depression, Low red blood cell count (anemia), Hypertension, and Tachycardia and 4 more.

Organ System	Phenotype Count	Example Features
Blood and immune system	3	Low red blood cell count (anemia), Enlarged spleen (splenomegaly), Decreased total neutrophil count

Genetic Landscape

Assembled from HGNC gene records, ClinGen gene-disease validity evidence, and ClinVar pathogenic variant data. Validity classifications reflect the strength of published evidence linking each gene to this disease.

FMO3 encodes flavin containing dimethylaniline monoxygenase 3 (532 aa). Essential hepatic enzyme that catalyzes the oxygenation of a wide variety of nitrogen- and sulfur-containing compounds including drugs as well as dietary compounds. Highest expression in Liver (152.5 TPM) and Adipose Subcutaneous (29.6 TPM).

Severe primary trimethylaminuria is associated with mutations in the FMO3 gene on chromosome 1.

The FMO3 protein participates in FMO3 mutants:FAD, Defective FMO3 causes TMAU, and FMO oxidises nucleophiles pathways.

FMO3 is classified as a druggable target (Druggable Genome and Enzyme categories) with score 3.5.

Diagnosis

Drawn from GeneReviews diagnostic guidelines, newborn screening panel status (RUSP), and ClinGen gene-disease validity classifications. Reflects current clinical evidence and consensus where available.

GeneReviews

Diagnostic Criteria

Diagnosis of primary trimethylaminuria has been discussed in detail and "best-practice" diagnostic guidelines have been summarized .

Suggestive Findings

Primary trimethylaminuria should be suspected in individuals with the following clinical findings and family history. Body odor resembling that of rotten or decaying fish. Unoxidized trimethylamine (TMA) excreted in the urine, breath, sweat, and reproductive fluids is highly volatile and has a pungent ammoniac odor reminiscent of rotting fish . Note: Diagnosis of primary trimethylaminuria cannot be based on the examiners sense of smell due to the following:

Treatment

Compiled from FDA-approved drug records, orphan drug designations, and FDA Adverse Event Reporting System (FAERS) safety data. GeneReviews management guidance is included where available.

No approved treatments are currently available for severe primary trimethylaminuria. The disease remains an area of unmet medical need.

Gene therapy approaches for severe primary trimethylaminuria have been reported in the published literature.

GeneReviews

Management Guidelines

No clinical practice guidelines for primary trimethylaminuria have been published.

Evaluations Following Initial Diagnosis

To establish the extent of disease and needs in an individual diagnosed with primary trimethylaminuria, the following evaluations (if not performed as part of the evaluation that led to the diagnosis) are recommended:

Prognosis

Estimated prevalence: Unknown (Unknown prevalence).

Research Landscape

Sourced from ClinicalTrials.gov and PubMed. Publication types are classified using NLM-curated article metadata; research type breakdowns reflect the nature of published work for this disease.

1 clinical trial registered, 1 recruiting. Interventions under study include other interventions. Research is primarily sponsored by academic and government institutions.

18 publications have been identified in PubMed for severe primary trimethylaminuria. Research spans Basic Science / Preclinical (33%), Case Report / Case Series (28%), and Review / Meta-Analysis (22%).

Research Type	Count	% of Total
Laboratory research	6	33%

Data assembled from 8 of 12 sources · Last updated Sep 19, 2026, 12:59 PM UTC

MONDOHPOClinicalTrials.govFDAPubMedHGNCClinVarClinGenGeneReviewsOrphanetOMIMRUSP

Medical References

External Resources

OMIM

Online Mendelian Inheritance in Man

OMIM:602079

Orphanet

European rare disease database

Orphanet:468726

GARD

Genetic and Rare Diseases Info Center

GARD:6447

Questions for Your Care Team

→Should my partner and I meet with a genetic counselor to discuss carrier status and family planning?
→Are any of the 1 active clinical trial a good fit for my situation?
→Are there specialists or centers of excellence for this condition in my area?
→Is there a patient registry I should consider joining?

← Back to All Diseases

Kisho

severe primary trimethylaminuria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Treatment of Manifestations

Clinical Trials

Recent Publications

severe primary trimethylaminuria

Overview

Clinical Presentation

Genetic Landscape

Diagnosis

Diagnostic Criteria

Suggestive Findings

Treatment

Management Guidelines

Evaluations Following Initial Diagnosis

Prognosis

Research Landscape

Medical References

External Resources

OMIM

Orphanet

GARD

Related Diseases

Questions for Your Care Team

Questions for Your Care Team

Clinical Guidance

Explore clinical features

Differential Diagnosis

Treatment of Manifestations

Clinical Trials

Recent Publications