Trimethylaminuria, also called fish odor syndrome, is a metabolic disorder characterized by a distinctive decaying fish odor of sweat, urine, breath, and other body secretions due to presence of abnormal amounts of the dietary-derived tertiary amine, trimethylamine (TMA).
Synonyms and Related Disorders
Inheritance (Rehman 1999)
The incidence of heterozygous carriers of the allele for impaired N-oxidation is estimated to be of the order of 1%.
Caused by deficiency of the flavin-containing mono-oxygenase isoform 3 (FMO3). A defect in hepatic N-oxidation of dietary-derived TMA causes excess excretion of TMA, leading to affected individuals to have a body odor resembling rotten fish (Basarab 1999).
Caused by loss-of-function mutations in the FMO3gene (mapped on 1q24.3) encoding an isoform of flavin-containing mono-oxygenase have been shown to underlie trimethylaminuria/fish odor syndrome...
KeywordsTemporal Lobe Epilepsy Bacterial Vaginosis Preimplantation Genetic Diagnosis Proton Nuclear Magnetic Resonance Body Odor
- Phillips, I. R., & Shephard, E. A. (2008). Trimethylaminuria. Updated March 18, 2008. Available at: http://www.ncbi.nlm.nih.gov/bookshelf/br.fcgi?book=gene&part=trimethylaminuria