Swedish TV show Outsiders looking for volunteer

Malodor-concerned Volunteer wanted for Swedish TV program (Outsiders, made by Titan TV).
TMAU or think they have TMAU ? (or metabolic BO/halitosis ?).
for series 14 of 'Outsiders' on Kanal 5.

contact :
matilda.borjesson@titan.se

They would like a Swede but would accept anyone ...
Swede,
Scandinavian,
European,
British,
American ?
etc

Outsiders is a popular Swedish TV show with a mix of 3 'people' stories in 60 minute shows.
They will follow you for a documentary of your life (probably edited to about 15 mins ?).
Outsiders on Kanal 5 is made by Titan TV.

Hoping to film in MARCH.
Any lost income would be reimbursed (please check).
Hoping to air in April/May.

If interested, contact :

Matilda Börjesson

Titan Television

matilda.borjesson@titan.se

This will be a piece in the series where we mix up different rare conditions to teach people about them and follow the people in their everyday lives. Usually we follow three different people/cases per show. Each show is 60 minutes long.

Cassie on UK 'Medical Mysteries' 2016

It will likely be similar to the UK TV program 'Medical Mysteries', which in 2016 Cassie kindly volunteered for.

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TMAU Webinar Mon Mar 27 : Preti & Guo

Preti RareC webinar 2013

Update :
Monday 27th is cancelled.
Dut to unforeseen circumstance.

NEW DATE CONFIRMED :
THURSDAY 30 MARCH
1pm NYT


TMAU Webinar. 
Monday March 27.
1pm EST (New York Time).
Guest Speakers : George Preti and Yiran Guo.
To speak on their recent TMAU paper.
Webinar platform courtesy of RareConnect.
Will be uploaded to YouTube afterwards.

Note : Webinar date/time subject to change, but this is the current agreed time/date.
We will keep you updated.

We are pleased to announce another rareconnect TMAU webinar. The speakers were leaders of the team that published the recent TMAU paper ...

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing.
Link to full paper
The paper was crowdfunded by the TMAU community via NORD

Guest Speakers :

George Preti (Monell Chemical Senses Center. Philadelphia)

Yiran Guo (Geneticist, Children's Hospital of Philadelphia)

Subject : the new TMAU paper :
The recent TMAU paper was interesting as it implied that genetic TMAU may not be solely due to faults in the FMO3 enzyme, but may also sometimes involve other enzymes.

RareConnect
RareConenct is a European charity that provides forums and networking for rare disorders. They have long been a help to the TMAU community, and hosted a few TMAU webinars before. This webinar will kindly be hosted by rareconnect staff member Marta.
rareconnect TMAU forum  

Abstract of paper :

Abstract
BACKGROUND:
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.
METHODS:
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.
RESULTS:
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.
CONCLUSIONS:
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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Adult TMAU Referrals : Evelina Hospital London

Adult TMAU referrals.
London.
Adult Metabolism Unit.
Evelina Children's Hospital, inside St Thomas Hospital.
Accept GP and local consultant referrals.
Similar service to Charles Dent London service.
Referrals : England (current info).
Added to MEBO Map (see sidebar).
Email : gst-tr.ELCHAdultMetabolicReferrals@nhs.net
Website : Evelina Adult TMAU refer

Mebo has become aware that another ADULT METABOLISM UNIT in LONDON has said it accepts ADULT referrals for TMAU. This would be similar to the Charles Dent Unit run by Dr Lachmann in North London.

How to get referred : 
You would need a GP or Local Consultant referral. There is a chance it may be for South London only (to be confirmed).
Full details can be seen on their website.
The current email on their website does not work (Feb 2017).

Contact details :
Adult Metabolism Unit
referral details :

Dr Yusof Rahman/Dr Radha Ramachandram, Consultants in Inherited Metabolic Disease
Department of Inherited Metabolic Disease
Evelina London Children's Hospital
3rd Floor, Becket House
Lambeth Palace Road
London SE1 7EU

The adult metabolic public e-mail address for GP referrals is:
gst-tr.ELCHAdultMetabolicReferrals@nhs.net

phone :
020 7188 4004

website
Adult TMAU referrals : Evelina Hospital London

Why go to an Adult Metabolism Unit ?
They have likely heard of TMAU and know the basics of TMAU.
Will likely order urine test easily. Then DNA test if positive for urine test.
Some sympathy.
They may have TMAU group sessions (a new trend).
Diet advice from the Diet Team.
Official diagnosis etc.

Adult Metabolism Units :
These seem to be a new trend in the UK, perhaps due to the single structure of the UK Health Service (NHS, top-down orders). At the moment it is likely the TMAU person will know everything told already, but the service for TMAU is in it's early years.
In other countries, perhaps you can look around to see if there are Adult Metabolism Units in your region.  

NHS Law/Contract circa 2014
Perhaps this NHS contract/law paper from circa 2013 has helped with the new clarity of Adult Inherited Disorder units purpose in the UK. Trimethylaminuria is included in the list.
E06/S/a : 2013/14 NHS STANDARD CONTRACT FOR METABOLIC DISORDERS (ADULT)
NHS : E06 : Metabolic disorders : Scope

MEBO Map
The MEBO Map (in the sidebar) is intended as a map of TMAU 'places', mainly places of help. Most of the locations are UK. The Heidelberg TMAU test is thought to be quite accurate. Also Denver TMAU test.
Better/new information for the map is always welcome.

Correction to this post are welcome.
If anyone has been to Evelina for TMAU, you can comment about it if you want.

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Kelly TMAU story goes viral media/internet

Thanks to Kelly who has done a TMAU media piece for Barcroft TV on youtube which has gone viral, including in the Daily Mail (world's most read new site). She also appeared on 'ITV This Morning' show the day after. Many world news sites also picked up the story.

Some stats after 2 days since the video upload to Barcroft :

Daily Mail stats : (article here)
10k shares.
2nd most read story in Health section over 7 days.
5th most read story in Health section over 30 days.
341 comments.

Other stats :
Barcroft YouTube channel :  254k views
ITV youtube views (1 day) : 19k views

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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).

Genetic analysis of impaired trimethylamine metabolism using whole exome sequencing
(Full paper)

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.

Conclusion 
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

Background

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.

Methods

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.

Results

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.

Conclusions

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.

https://www.sciencedaily.com/releases/2017/02/170215084717.htm  

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KunKun Sniffer Sensor Smartphone app for underarm BO / smelly feet

Konica Minolta developing a 'sweaty smells BO/feet' sensor app for smartphones.
'KunKun' (Japanese for 'sniff sniff').
Not available yet. (est. launch Japan : summer 2017)
Detects metabolites associated with sweaty body/feet odor.
Very little info so far.
First media reports this week.

This week media has reported that Konica Minolta company of Japan are developing a consumer sensor device that detects metabolites associated with 'underarm body odor' 'foot odor' or 'middle age fat odor'.

The sensor will be hardware that displays data info on a device (e.g. Smartphone, computer). Probably the info will be sent by bluetooth.

What you will need :
The hardware sensor.
A device to display the data (e.g. smartphone)

What metabolites it detects :
Reports say ...
ammonia
isovaleric acid
2-nonenal

Konica :

It seems they started this research maybe 1 1/2 years ago, The aim will be a consumer device.

HANA :

They are using a High Accuracy Nose Assist to sense odors, Currently this has led to the KunKun for sweaty odor metabolites, Maybe in the future the Hana can be used to detect other smelly gases.  

How is the info displayed on a device (e.g. smartphone) ?

It looks like each gas chemical will be marked out of 5 for strength, Pretty basic. A bit like a traffic light system. Ultimately actual measurements will be wanted by most users.

Sensor technology :

A few things need to be kept in mind re consumer sensors :

1. The technology is at an early stage. Probably any device will be seen akin to a 1970's computer in a few years. Groundbreaking at the time, but in hindsight pretty rubbish.

2. The 'market' seems to be just waking up to the concept of a 'smell market'. Even if you take the 'paranoid smell teen phobia' market, possibly most teens would want a smell sensor to check for smells. Until recently the sensor market does not seem to have considered this market. 

Recently Mark Cuban and all the Shark Tank investors invested in a smartphone alcohol sensor on Shark Tank. An observation would be this wasn't a very interesting idea. But now they have abandoned 'alcohol meter. and switched to a breath sensor (Mint Breathometer). There has been lots of investment in this device. So far it has not been available despite being scheduled for last Fall. One possibility is they have been overwhelmed with orders.

All current consumer sensors should be regarded as poor/useless :

This would be a good rule of thumb when buying a consumer 'sniffer' device currently. 

A consumer sensor will be as important as a cure for the Metabolic Malodor Community :

Most people with metabolic malodors cannot smell when they smell. So a consumer sensor is as important as a cure, because only with a reliable sensor can a person be sure they don't smell. It has been something MEBO has tried to source over the years, to no avail. Probably the company directors realising the hugeness of the 'malodor phobia' market will now takeover and the market will naturally come up with devices, though it could be a few years yet. 

Links about the Konica Minolta KunKun sniffer :

Konica site

New Atlas article

Brain Portal Journal article
Telegraph paper article
Wall St Journal article
Daily Mail article

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New MEBO Director of Chilean Affairs

The New MEBO Director

of Chilean Affairs

As part of new MEBO Latin American Program, I would like to present the new Director of Chilean Affairs, Sebastián Palma. This program has been very active in Mexico, Peru, and Brazil, thanks to the 3 new MEBO directors in Latin America. Sebastián was selected as the Director of Chilean Affairs because of his steadfast dedication to raising awareness of uncontrollable breath and body odor conditions, such as TMAU, in the scientific and medical communities in Chile.

Please join him to give him your support. The more people are dedicated to this work, the greater success we will have.

The more people are dedicated to this work, the greater success we will have.

We are exceedingly grateful to all our MEBO Directors for their dedication to fight for us!

María

María de la Torre
Founder and Executive Director

A Public Charity
maria.delatorre@meboresearch.com
www.meboresearch.org
www.mebo.com.br/
MEBO's Blog (English)
El Blog de MEBO (español)
MEBO Brasil - Blog (Portuguese)

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Update: MEBO Metabolomic Profiling Pilot Study

Metabolomic Profiling

METABOLOMIC PROFILING

PILOT STUDY

I am very excited to have received an email from the scientist, Business Developer Manager, of The Metabolomics Innovation Center, University of Alberta, Canada, who will be analyzing the urine samples of the MEBO Metabolomic Profiling Study. She tells me,

Maria...I've confirmed with [the scheduler] that we should be able to run your samples on at least 2 analytical platforms and get the data to you before your conference. We will keep you posted.

She had given me the links to the 3 assays she and Dr. Wishart decided to start the analysis of our Pilot Study,

1) DI-MS http://www.metabolomicscentre.ca/services/1

2) NMR http://www.metabolomicscentre.ca/services/2

3) GC-MS Organic Acids assay http://www.metabolomicscentre.ca/services/25

I have attached a link to our website for each assay so that you can have a look at the range of metabolites that will be covered.

The results of at least 2 out of 3 analytical platforms will also be analyzed by MEBO's Scientific Director and member of the MEBO Institutional Review Board (a.k.a. Ethics Committee), Irene Gabashvili, PhD. These results will be a topic of discussion at our Annual MEBO Meetup and Conference at 8:00p.m., on March 31, 2017, at the,

Penguin Hotel

Rooftop Terrace

 1418 Ocean Drive

South Beach>

Miami Beach, FL 33139, USA

305 534 9334

I'm very much looking forward to seeing many of you at this great event where we share a great deal of information with other fellow sufferers, and enjoy beautiful South Beach!

María

María de la Torre
Founder and Executive Director

A Public Charity
maria.delatorre@meboresearch.com
www.meboresearch.org
www.mebo.com.br/
MEBO's Blog (English)
El Blog de MEBO (español)
MEBO Brasil - Blog (Portuguese)

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Sheffield TMAU test back : And new ref ranges

The Sheffield NHS TMAU urine test will be back on Monday (13th 2017).
It will have new reference ranges which are higher, meaning more people will be 'positive'.
A Community Campaign led by Karen possibly helped 'focus minds'.
No news yet of other NHS labs starting to offer the test.

Sheffield advice for test access :
a GP or physician referral is essential, but our laboratory can offer advice by telephone or email on how to start the process
Sheffield CH website

Sheffield Children's Hospital UK.
The SCH has been the sole UK/Eire TMAU urine tester for many years (circa 1997). Last Autumn the test was suspended. A concern was that since the founder of the test (Nigel Manning) was retiring, that it may not return. Possibly these concerns were unfounded.

Testing Machine : Gas Chromatography
They will continue to use Gas Chromatography. Probably a legacy thing, as GC was the norm in 1997 and that is where their history lies for this test (and probably the machine).
Nowadays, if a lab was starting from scratch for a TMAU urine test, it would probably be based on Liquid Chromatography.

New Sheffield ref ranges.

TMA:  < 7.7 µmol/mmol creatinine
TMANO: < 119µmol/mmol creatinine
% N-oxidation: > 90-94%

Comment on the new reference ranges : 

TMA 'normal cut-off point' is lower, meaning probably more TMA-overload positives (TMAU2). We have no comment on this, as it's not something we have info to compare to.

TMAO cut-off: Sheffield give a ref range for TMAO. In theory it would not seem relevant, but it does gives info. Example, if it's very high it means the person is producing a lot of gut TMA, but they can at least oxidize it.  

TMAO oxidation % cut-off point is higher (90-94%)
Sheffield used to give this as a ratio, whereas all the other labs give it as a %.
A % is easier to understand (compare with other labs without need for arithmetic conversion), so this change is welcome
A major change that will greatly increase the TMAU1 positives is the new 'normal cut-off' point at around 90-94%. It used to be around 79%.
This seems much more in line with other labs and FMO3 papers, so is very welcome. The old cut-off point was too conservative.

On why they changed the reference ranges :
They are from the literature and the same that Heidleburg use and we have validated them with donated samples from the laboratory staff.  We are still collecting data and hope to publish our own in the future.  We have informed the laboratories and the clinicians that use our service that we are back in action so hopefully they will start to see patients again now.

Other NHS Labs to offer the test ?
During the discussion, there was talk of one or 2 other UK NHS biochemistry labs considering to start offering the TMAU urine test. Historically TMAU is seen as a 'very rare' condition and probably 'the poor relation' of rare disorders. In truth, when you add 'outliers' and TMAU2's, it could be quite common. In a small paper in the 1980's with about 400 students tested, about 3.8% were under 90% TMAO output, which back then would be within the normal range if above 80%. Nowadays that might make them borderline/transient/officially TMAU.
Rumor was that Bristol and Newcastle and perhaps a London NHS hospital were considering the test, but as of yet there is no news. It seems the network of NHS Biochemistry labs for Adult Metabolism Units can set their own rules on this test. So it may be looking more pessimistic but we will try to follow up.
The network of relevant NHS Biochemistry labs are known as METBIO  

Karen's Campaign to have the test reinstated
TMAU tests at other labs have been scrapped in the past. It was feared this would happen with Sheffield. But whatever, a campaign to notify politicians and relevant agencies was begun, and it probably helped focus minds. Certainly it seems the politicians and agencies inquired about it. Hopefully it is an example of TMAU community power.

So overall, a problem has had a positive outcome.

Quotes from the lab

We are pleased to announce that Trimethylaminuria (TMAU) testing will recommence on Monday 13th February.

We are able to start receiving samples any time from now. All samples sent before the temporary suspension will be tested shortly.

Thank you for your patience while we resolved the technical issues related to this test.

The sample volume and requirements are as previous (20ml random urine acidified to pH2 with HCl or 24 hour urine in HCl sent by first class post).  However, the method has been significantly modified from the previous method and subsequently the old reference ranges are invalid.  The new reference ranges will be:

TMA:  < 7.7 µmol/mmol creatinine
TMANO: < 119µmol/mmol creatinine
% N-oxidation: > 90-94%

They are from the literature and the same that Heidleburg use and we have validated them with donated samples from the laboratory staff.  We are still collecting data and hope to publish our own in the future.  We have informed the laboratories and the clinicians that use our service that we are back in action so hopefully they will start to see patients again now.

*********

You recently asked to be contacted when the Trimethylaminuria (TMAU) testing service provided by Sheffield Children's NHS Foundation Trust was restored. We are pleased to announce that testing will recommence on Monday 13 February.

We are able to start receiving samples any time from now. All samples sent before the temporary suspension will be tested shortly.

Please note that a GP or physician referral is essential, but our laboratory can offer advice by telephone or email on how to start the process.

Further information about the test is available on our website: http://www.sheffieldchildrens.nhs.uk/our-services/laboratory-medicine?tab=4

Thank you for your patience while we resolved the technical issues related to this service.

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The new "MEBO Latin American Program"

THE NEW MEBO

LATIN AMERICAN PROGRAM

It is with great pleasure that I announce the new program of our MEBO Charity, the “MEBO Latin American Program”, which includes Central and South America and the Caribbean. In addition, I would like to announce the placement and registration of three new directors in the MEBO Research Registry of the State of Florida, Division of Corporations.

These directors are,

Thiego Reis, Director of Brazilian Affairs

MariaClaudia Galindo Alvarado, Director of Peruvian Affairs

Maria Cristina Sánchez López, Director of Mexican Affairs

They have been diligently working at contacting geneticists and other medical professionals, hospital laboratories, universities, and the branches of the Rare Disease Society of their respective countries with the hopes of promoting diagnostic testing and of realizing new research studies on trimethylaminuria and other causes of body odor and halitosis. Any sufferer of these director's respective countries who are interested in working with them, please contact them to offer your help as much as possible. The more people that get together for the same cause, the greater the achievement potential.

Thanks to everyone for your support and fine work.

María

María de la Torre
Founder and Executive Director

A Public Charity
maria.delatorre@meboresearch.com
www.meboresearch.org
www.mebo.com.br/
MEBO's Blog (English)
El Blog de MEBO (español)
MEBO Brasil - Blog (Portuguese)

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