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anti-TMA pill in a year or 2 ? (scroll 12 mins)

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MEBO - UBIOME study 2018



MEBO Gut Microbiome Study
"Microbial Basis of Systemic Malodor and PATM Conditions (PATM)"
Funded by uBiome Research Grant

"Microbial Basis of Systemic Malodor and PATM Conditions (PATM)"

Dynamics of the Gut Microbiota in
Idiopathic Malodor Production

Started May 2018 - Ongoing

Current people sent kits : 100/100
3 kits per person


Participation info : LINK English

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TMAU Petition world
TMAU UK end total:262
TMAU UK ends 23/01/20
TMAU Petition USA end total 204
USA : Moveon open
TMAU (Dominican)
Metabolomic Profiling Study

Start : Aug 2016
Stage 1 : 27 Canadian volunteers to test
Latest click here (26 oct) :
17 samples returned

Note : Stage 1 is Canada only.
Return cut-off date : passed
Analysis can take 6/8 weeks
Analysis start in/before Nov
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Denver TMAU Test Lab survey click here
click to Read more/less

USA survey for anyone who wants to improve Denver TMAU test

begun : Dec22
end : no ending for now

A trainee genetic counselor is working at the Denver TMAU test lab. Probably as part of her training. As a project she wishes feedback on any aspect of the Denver TMAU test and process. You can fill in the survey and/or email her (email address is in survey). It's meant for USA people, but perhaps others can give their view too (as we have so few opportunities).

quote from her rareconnect post

"Hello all! I wanted to make you aware of a research study being conducted to better understand the experience and needs of individuals with trimethylaminuria with a goal of being able to create improved patient and healthcare provider education materials. Any participation is completely voluntary and all responses remain confidential. Feel free to use the contact information within the link with any questions or share the survey with others with TMAU."

see this post for more details

Saturday, February 18, 2017

Crowdfunded Monell TMAU paper published in Journal

Monell-based new TMAU paper published this week.
Conclusion : Enzymes other than FMO3 may be at fault for TMAU.
Based on exome testing 10 samples from their TMAU archive.
Study was funded by community crowdfund campaign ($33.5k ?).
Community donated to NORD TMAU Fund circa 2011.

Long-time readers may recall an energetic crowdfund-type campaign around 2009 to raise $25k for the NORD TMAU Fund. The aim was to fund a research study by Monell Chemical Senses Center, which has a long history of interest in  TMAU.

Paper published in Medical Journal
The research team kindly put the paper on an open source online site last fall to view, and now it's been published in an official Medical Journal (BMC Medical Genetics). This gives it more prestige and publicity (e.g. appearing on pubmed).

Purpose of the paper (first impression) :
With the limited funding, the aim seems to have been to re-look at 10 TMAU1 cases they had previously assessed that were +ve for the TMAU biochemical (urine) test but not the FMO3 DNA test. That is : TMAU1 for urine, but not the FMO3 DNA test.

Testing the genes (Exome testing)
It looks like they Exome tested the DNA to look for any other gene faults that may explain the +ve TMAU biochemical result. Exome testing means testing other protein DNA genes.

They seem to conclude that faults at other genes may explain the +ve biochemical TMAU result. This would mean genetic TMAU may be caused by genes other than FMO3.

The above overview of the paper is very much a layperson first-impression overview.  
It will be interesting to read any reader views on the paper.

Links :
Science Daily : (Press release from Monell)
Abstract of the paper

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing
Full paper : link


Trimethylaminuria (TMAU) is a genetic disorder whereby people cannot convert trimethylamine (TMA) to its oxidized form (TMAO), a process that requires the liver enzyme FMO3. Loss-of-function variants in the FMO3 gene are a known cause of TMAU. In addition to the inability to metabolize TMA precursors like choline, patients often emit a characteristic odor because while TMAO is odorless, TMA has a fishy smell. The Monell Chemical Senses Center is a research institute with a program to evaluate people with odor complaints for TMAU.


Here we evaluated ten subjects by (1) odor evaluation by a trained sensory panel, (2) analysis of their urine concentration of TMA relative to TMAO before and after choline ingestion, and (3) whole exome sequencing as well as subsequent variant analysis of all ten samples to investigate the genetics of TMAU.


While all subjects reported they often emitted a fish-like odor, none had this malodor during sensory evaluation. However, all were impaired in their ability to produce >90% TMAO/TMA in their urine and thus met the criteria for TMAU. To probe for genetic causes, the exome of each subject was sequenced, and variants were filtered by genes with a known (FMO3) or expected effect on TMA metabolism function (other oxidoreductases). We filtered the remaining variants by allele frequency and predicated functional effects. We identified one subject that had a rare loss-of-function FMO3 variant and six with more common decreased-function variants. In other oxidoreductases genes, five subjects had four novel rare single-nucleotide polymorphisms as well as one rare insertion/deletion. Novel in this context means no investigators have previously linked these variants to TMAU although they are in dbSNP.


Thus, variants in genes other than FMO3 may cause TMAU and the genetic variants identified here serve as a starting point for future studies of impaired TMA metabolism.

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Anonymous said...

Would these different enzyme/pathways need a different type of treatment than those with the FMO3 defiency? I know the Trinzyme study is targeting the FMO3 enzyme but what about the Proctor Gamble OTC. Are they targeting a specific pathway?

Feb 19, 2017, 4:55:00 PM
Anonymous said...

This is a good article on the subject:

Mar 4, 2017, 8:06:00 AM
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