trimethylaminuria
MONDO:0011182Mondo
Findings
No curated finding names trimethylaminuria yet. Everything below is reference data from Mondo, HPO and GenCC, not evidence about what affects it.
Definition
A rare inborn error of metabolism characterized by the presence of large amounts of trimethylamine in urine, sweat, and breath, resulting in a fishy body odor in affected individuals.
Definition from the Mondo Disease Ontology (MONDO:0011182), read 2026-09-29. CC BY 4.0.
Genes
1 gene
Germline variants in the gene encoding each protein, as classified by GenCC submitters, each in their own words. Limited, disputed and refuted submissions are listed too.
- FMO3HGNC:3771
- Definitive · ClinGen · Autosomal recessive · 2020
Where it sits
- Narrower terms (2)
Other names
4 names
Resolves to: trimethylaminuria
- Also called
- fish odor syndromefish odour syndromefish-odor syndrometrimethylaminuria (disease)