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TRIMETHYLAMINURIA (FMO3)

TRIMETHYLAMINURIA (FMO3)
FISH ODOR SYNDROME; FMO3 DEFICIENCY
602079
OMIM = Online Mendelian Inheritance of Men
468726
Dimethylaniline monooxygenase [N-oxide-forming] 3
1.14.13.148 / 1.14.13.8
1q24.3
E88.8
rare
autosomal recessive
1) primary genetic form,
2) acquired form,
3) childhood forms,
4) transient form associated with menstruation,
5) precursor overload and
6) disease states [Cashman, JR et al. 2003]
The primary genetic form causes decreased FMO3 activity, and a secondary form is due to TMA or to TMA-precursor overload [Kim JH 2017]
Laboratory findings   Trimethylamine inc (urine)
    Testosterone 17-beta-dehydrogenase 3 dec (urine)
    Trimethylamin-N-oxide dec (urine)
Symptomsfishy body odor, rotting fish odor
tachykardia, paroxysmal
   depression
   infections (respiratory tract/system)
   no clinical symptoms (probably)
   tachykardia
   unusual odor / odour
    anemia
    behavior, self-mutilating or destructive
    infections (severe or recurrent)
    MRS, brain, abnormalities
    neutropenia (decreased neutrophils)
    onset, childhood
    onset, infancy
    onset, neonatal
    splenomegaly (large spleen)