Seen neurologist, seen haematologists, still need some help

I'm getting worse since being put on maintenance dose of 1 injection a month- not as bad as I was on 1 every 3 months (yet), but my MMA level is already higher now than it was when diagnosed with Functional B12 deficiency, confirmed by St Thomas' in October last year because of my high MMA. So haematology are now sending blood to be tested for genetic mutation.

Which is excellent.

Also excellent that I will be having a brain scan (MRI) -checking for lesions also anything not B12 related.

What is not so excellent is that although both me and my partner have made it very clear that I am getting worse on this regime and that it is not able to maintain even the poor level that I was at when it was started (against my wishes), I cannot get it improved even in the interim period.

The help that I need is this:

I have tried to understand MTHFR but don't. Need it broken down or simplified. Can anyone help with that?

Need to stop haematologists talking about harmful effects from B12, animal experiments and cancer to me. Need also to stop the rumours repeated to me by haematologists about how extremely addictive it is. These are damaging my chances of recovery and scaring me stiff : not the rumours, but the expertise of the people using these as a valid reason to undertreat my condition. So: any evidence at all for this? I asked three times yesterday for proof...

I am beginning to believe that the only reason that everyone is ignoring the diagnosis of Functional B12 deficiency given to me last year is because they don't understand it and there are no guidelines telling them how to treat it. Showed yesterday's haematologist the Turner and Talbot paper: she pointed out the date (2009 I think ?) and I said no-one's done anything since.

Any and all advice welcome, because I just can't believe that this is the real world, and I'm running out of time.

7 Replies

oldestnewest
  • Re MTHFR.

    One of the reaction B12 participates in is the conversion of homocysteine to methionine. In this reaction a methyl group is transferred from methyltetrahydrofolate (MTHF) to cob(II)alamin, which is produced when the top ligand (methyl, adenosyl, hydroxo, or cyano) is removed from B12.

    MTHF is formed from methylenetetrahydrofolate by the action of the enzyme methyltetrahydrofolate reductase (MTHFR). If one has a problem with the MTHFR enzyme then the body can't produce MTHF as efficiently as it should do, which can cause a few problems, including impaired conversion of homocysteine to methionine.

    The MTHFR enzyme production is coded by a gene also called MTHFR. Mutations in this gene are surprisingly common (less than 4 in 1000 have no mutations) but only one specific mutation has been shown to definitely cause problems.

    This mutation is called C677>T and it causes the body to make a version of the MTHFR enzyme that is less stable than normal. If you have one copy of this mutation (heterozygous) then the activity of the enzyme is about 80% of normal, which causes no problems (the body just makes more of the enzyme).

    If you are one of the 9% that has two copies of the mutation (homozygous) then the enzyme activity is about 25% of normal. For many people this doesn't cause any real problems, others can benefit by taking MTHF (also known as methylfolate) as a supplement.

  • Thanks a lot, fbirder - that is exactly what I was after.

    Got a letter from haematologist, ending in a plan: includes asking GP for blood tests etc, waiting for brain scan (MRI- neurology dept) results, homocysteine test requested and sending blood to genetics lab for testing- 1 carbon metabolism mentioned.

    Does this test link with the C677>T mutation ?

    Am assuming this would be the reason for homocysteine test, which would be looking for a raised level through conversion inability ?

    You once also mentioned TCII 775G>C polymorphism - any link to that ?

    A lot of questions I know, but I like to be aware of what is being tested, what isn't and what could be, since this opportunity won't be repeated. Thanks in advance.

  • Yes, transfer of a methyl group (-CH3) is one-carbon metabolism. There are lots and lots of different metabolic processes that involve methylation and lots and lots of genetic defects that can affect them. The MTHFR gene is just one (probably the most infamous because lots of people have tried to make money by scaring people about it).

    I'll be most interested in your results and a proper doctor's interpretation.

    The TCII polymorphism is something totally different. The TCN2 gene is responsible for making transcobalamin, the protein that carries B12 into the cell. It's not that well studied. I think I'm heterozygous for the mutation you mention, but I can't access my PC just now, so I can't check.

    The homocysteine test will show up any problems with B12 or methylfolate.

  • Absolut nonsense that B12 is addictive or toxic , even massive doses. I have to self inject weekly, as my GP will not let me have more than one every 3 months . So I keep myself well with self-injections ! I advise the same for you !

  • I know it's nonsense, wedgewood - doesn't it make you weary that haematologists would be saying this to patients?

    How many people -patients and concerned GPs- have believed this to be true simply because of the qualifications of those repeating it ?

    How many people are getting under-treated -or not treated at all- because of it ?

    WHERE IS THE EVIDENCE ?

  • Itmust be true. I read it on the interwebs. (Well that seems good enough for many of the claims I read on here).

    It causes leukaemia and cancer. It must be true became the people on the web site are wearing white coats. newhealthguide.org/Vitamin-...

    Please note: This website is total bollocks please do not actually read it unless you want a laugh.

  • Hahahahahahahahahahahahahahahahahahahahahahahahaha......... couldn't help but read it, fbirder.

    Nothing about animal testing (which I have in print- in haematologist's letter to my GP !!!), no quotes and no named references, in fact no authors at all. Hans Christian Anderson? Brothers Grimm ?

    Mostly, if you google toxins and B12, you will get a description of where B12 is used to detox !

You may also like...