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trimethylaminuria (fish-odor syndrome)
Epidemiology: rare
Pathology:
- odor caused by deficiency of FMO-mediated N-oxidation of trimethylamine derived from foodstuffs
- excretion of relatively large amounts of TMA in urine, sweat, & breath
Genetics:
- associated with defects in FMO3, FMO4
Clinical manifestations:
- offensive fishy body odor characteristic of malodorous free amines
General
inborn error of metabolism
Database Correlations
OMIM 602079
References
- UniProt :accession P31513
- OMIM :accession 602079
- Wikipedia: Trimethylaminuria
http://en.wikipedia.org/wiki/Trimethylaminuria