How many people have been diagnosed ?

help with getting a diagnosis

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How many people have been diagnosed ?

Postby admin » Fri Mar 17, 2017 7:48 pm

after 5 experts, 3 in the uk and 2 in the US, this is the closest I can can get;

""Thank you for your mail and my regards to Dr. Mitchell. Unfortunately we don't have any statistics to answer the question you pose. As you know trimethylaminuria (TMAU) is an odor-producing disorder that may be caused by a spectrum of changes within the Flavin-containing monooxygenase 3 (FMO3) gene. Some of the more common (found in up to 10% or more of the population) polymorphic changes in the gene are also reported to cause diminutions in the ability to oxidize trimethylamine (TMA), particularly when two of them exist in the same individual. Consequently while I don't know an exact number one could use the definition of a "rare disease" and say up to 1 in 200,000 may have the disorder. However, I think this refers to severe cases caused by rare mutations in FMO3. To further confuse the situation, we have a manuscript about to appear which used an exome analysis of 10 TMAU-positive individuals which shows the involvement of other genes, in addition to FMO3, in TMAU.""

George Preti, Ph.D.
Member, Monell Chemical Senses Center
3500 Market Street
Philadelphia, PA 19104
www.monell.org
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Re: How many people have been diagnosed ?

Postby sweatybetty » Tue Apr 04, 2017 11:06 am

I have also been trying to find out the numbers of people with TMAU in the UK and have found it extremely difficult to get any data/evidence.

I asked Dr Lachmann and he mentioned the number of patients he sees, which given that his is the central specialist cluster area along with groupings in Dublin and Salford etc suggests that the numbers are still very small <1000 in the UK.

Nigel Manning's data and analysis on tests and diagnosis was up to the period of 2012 and from memory the diagnosed figures were less than 500?? I spoke with Sheffield and asked if they would consider updating these figures to show the overall number of diagnosed cases in the UK but they had no plans to do so. I even offered to do the number crunching/ spreadsheet analysis if they could anonymise the data but it seems impossible to get to the figures. Wish Nigel Manning was still there as he was such a informed source on TMAU!

I find this quite frustrating in allowing me to communicate in a logical, evidenced based and credible way about the condition i.e. is the condition rare or is it as some are now debating not rare (obviously I realise there are other odour condition than TMAU and some people with the TMAU odour condition have not accessed testing) but when I am talking to people about this condition I would really like some facts to give them.

Anyone else have sources of current information on actual numbers with TMAU?
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Re: How many people have been diagnosed ?

Postby PoetFire » Tue Apr 04, 2017 1:40 pm

I agree with both the above posts.

Re the first post :
I carry the 2 common SNP's .... at 158 and 308.
I think this is the 10% population Dr Preti refers to.
So in theory you could have 10% who might be 'prone' to FMO3 smells I guess (??).
Maybe you need to carry them from same parent or something.
Well at least to me, it might be 1% or more who are ''fmo3' prone. As it doesnt seem that 10% have smell problems ... but you never know.
It's a % game, rather than being positive/negative. If you tend to be under 95% TMAO you might be smell prone.

Having stats would help us greatly.
Especially to show how common it is.
Then research would follow you would hope.

Re 2nd post :
I guess the fact is ... the UK/Eire TMAU test was Nigel, not Sheffield.
Now Nigel has gone and Sheff still has the test, but has reverted to the same attitude as all the other NHS/Europe health system labs (i.e. not communication friendly etc).
Nigel set the test up around 1997 and no other lab followed his lead.
So with him gone it's gone back to a wall of jobsworthiness.

but ...
Nigel had his ref ranges set very conservative (tmao % at around 79%) ...
Which the new team have set at 95% I beleive (fair, imho ... higher than I expected).
which imho meant many were told they were '-ve' who would now be +ve.
So they have done well to change that.
They went with Heidelbergs ref range I believe (and other sources such as Prof Shephard review paper).

Really every 'rare disease' should have a public record of the numbers,
but it's regarded as a 'new request' from the public and (e.g.) not from a source they worry about (e.g. management, MPs) to the units/labs involved, and they can't be bothered imho (a bit harsh, but my perception).

We would probably need to ask them in some way that worries them (e.g MP).

Thanks anyway Sweatybetty for the work you have done.
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Re: How many people have been diagnosed ?

Postby PoetFire » Tue Apr 04, 2017 1:59 pm

Also, I feel Dr Preti may have moved from a 'conservative' view to a more 'open-minded' one over the years (my impression).
I heard his webinar recently, and from the post above, it feels like he has shifted a bit (could be wrong).
Maybe helped by the fact that none of the 10 in their 2012 paper who had TMAU1 via urine test had textbook TMAU1 in the DNA test (apart from maybe 1, iirc).

1 way I disagree now though is that the paper mentioned, they now theorize TMAU may not be always due to FMO3 issues alone.
I still feel FMO3 is probably the sole problem (for most cases of metabolic BO), but that the smells are probably not due to TMA (or it's a small player).
I think Preti may agree with me on that 2nd point (that TMA may not be the main/sole reason for the smells).
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Re: How many people have been diagnosed ?

Postby PoetFire » Wed Apr 05, 2017 12:26 pm

sudden idea :

perhaps we could aim for a :
TMAU Friends of Sheffield Children's Hospital group (i.e. we are friends with them, but 'nudge' group really ... i.e. frenemies :))
to try and influence them.

2 aims that come to mind ...

1. a TMAU@sheff email address they use, so people can contact them easy (they have hid all their emails now)
2. try and persuade them to let us use a broker (NHS law) who can let us test diredct as close to the price as possible (£137)

re 2nd point, a broker ...
there's a NHS rule the test-order person must have a 'health qualification'.
In effect this can be pretty vague (i.e. natural therapist, nurse ... please check)
They also probably wouldn't send test kits (though they could).
So if any of us had a 'health qual', they might be able to act as broker.
Personally I wouldnt mind if they made a small fee for the service (say £25).

Just a thought
Last edited by PoetFire on Wed Apr 05, 2017 12:53 pm, edited 1 time in total.
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Re: How many people have been diagnosed ?

Postby PoetFire » Wed Apr 05, 2017 12:51 pm

and 3 ...

the stats published (e.g. every 6 months) in a journal so they end up on pubmed.
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Re: How many people have been diagnosed ?

Postby sweatybetty » Thu Apr 06, 2017 1:23 pm

Interesting ideas Poetfire

I noticed this paragraph tagged at the end of the NHS factsheet on TMAU condition .

http://www.nhs.uk/conditions/trimethyla ... ction.aspx

Information about you

If you or your child has trimethylaminuria, your clinical team will pass information about you/your child on to the National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS). This helps scientists look for better ways to prevent and treat this condition. You can opt out of the register at any time.
Find out more about the register.


Not sure if this means if you test positive on the gene test for TMAU the figures are captured by NCARDS or whether information on positive urine tests are being forwarded? Looking at the last credible information (i.e. Manning's 2012 presentation) the number testing positive on the DNA test were very low even when they urine test indicated TMAU1.

I have emailed NCARDS London and South East Region this afternoon (text below) to see if they can provide any insight into numbers

phe.ncardrslse@nhs.net


To the data controller

I noted from the NHS information on TMAU that clinicians will pass on the data to National Congenital Anomaly and Rare Diseases Registration Service (NCARDRS).

Please see the following link to NHS information on TMAU

http://www.nhs.uk/conditions/trimethyla ... ction.aspx



I should be grateful if you would supply me with the following information

The total number of diagnosed case of Trimethylaminuria in the UK

If the information is further broken down into the following categories I would be most grateful if you could supply data for the following

No of diagnosed cases of Trimethylaminura (TMAU) confirmed through DNA testing

No of cases of TMAU confirmed via urine testing

No of females diagnosed with TMAU

No  of males diagnosed with TMAU

Yours sincerely
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Re: How many people have been diagnosed ?

Postby PoetFire » Thu Apr 06, 2017 7:48 pm

Sounds good.

I asked Sheff before about publishing regular stats in a peer journal (say twice a year).
The reply was vague and lukewarm. I am not hopeful. Maybe some external 'nudge' needed.

The good thing about Nigels charts was it was the data of all who tested.
He gave his 'conservative' ref range as guidance, but we can put the ref range where we wish.
Then we can decide ourselves how many are +ve etc.

Theres 2 parts to reading the test results :
1.the data
2.interpretation
but if they are 'conservative' then the interp may not be much use.

I guess the 'true' gauge of being TMAU is the urine test, as if you are TMAU1 for that it seems the load wasn't metabolized.

Re DNA results :
Theres 2 parts again :
1 recording any mutations/SNPs etc
2 Interpretation

My impression is that Sheff would be very conserv with the interp.
Also, there is debate as to what faults might be 'benign' or 'pathogenic'.
From results I have seen, many in the smell community should in 'theory' be 'carriers' only.
Or they carry small faults in a compound way.
My own faults, maybe 10% whites carry them (it said).
Very few seem to carry or be a 'textbook' TMAU1

So ironically the DNA test is not the final evidence it should be.
This gives the chance for a lab to say 'you dont have it genetically'.

Collecting both urine and DNA stats would be the most important aim for us.
Especially keeping the data from the same person
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