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

More general terms

• inborn error of metabolism

Database

• OMIM: https://mirror.omim.org/entry/602079