TRIMETHYLAMINURIA (FMO3)

Question 1

What is  TRIMETHYLAMINURIA (FMO3)?

Accepted Answer

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]

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Trimethylaminurie, primäre schwere

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 602079

Question 4

Which enzymes are involved?

Accepted Answer

Dimethylaniline monooxygenase [N-oxide-forming] 3

Disease	TRIMETHYLAMINURIA (FMO3)
Synonym	FISH ODOR SYNDROME; FMO3 DEFICIENCY
OMIM	602079 OMIM = Online Mendelian Inheritance of Men
Orphanet	468726
Protein (UniProt)	Dimethylaniline monooxygenase [N-oxide-forming] 3
ExPASy	1.14.13.148 / 1.14.13.8
Gene locus	1q24.3
ICD	E88.8
Summary	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)
Symptoms	fishy 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)