Impact of trimethylaminuria on daily psychosocial functioning.

ABSTRACT:

Background

Trimethylaminuria (TMAU) (OMIM #602079) is a rare inherited metabolic condition. TMAU is associated with decreased hepatic trimethylamine N-oxidation, which leads to an excess of the volatile trimethylamine (TMA) instead of substrate conversion to trimethylamine N-oxide (TMAO). TMA is a tertiary amine derived from the enterobacterial metabolism of precursors such as choline and phosphatidylcholine present in the diet, and is also a bacterial metabolite of TMAO, a normal constituent of saltwater fish. When the involved enzyme flavin mono-oxygenase 3 is deficient, TMA builds up and is released in the person's sweat, urine, and breath, giving off a strong body odor. We have recently reported the biochemical and genetic characteristics of 13 Irish adult patients with TMAU at

SUBMITTER: Roddy D 

PROVIDER: S-EPMC7802621 | biostudies-literature | 2021 Jan

REPOSITORIES: biostudies-literature