Hello , my daughter developed severe neurological symptoms 18 months ago , fatigue , mood disorders , intractible insomnia , body pain , memory loss and cognitive issues and visual difficulties such as blurred vision static and visual snow . She was unable to tolerate light , sound , touch and found it difficult to understand the environment around her The doctors were at a loss as to what is going on . She started to develop some of these issues after puberty but came to a head may 2019 .
The only positive tests we have is an astronomically high B12 LEVEL ( not on supplements ) an elevated red blood cell folate and homozygous MHTFR mutation A129C.
Her homocysteine levels are 8 which is normal , however her methymalonic acid levels were extremely low ( under 50 ) .I have read everywhere else that normally these are elevated if we have b12 deficiency .
trying to decipher what this means , seeing a haemotologist next week .
I started her on some oral b12 which helped however injections seem to be better . we have only been doing this for a week , however her visual symptoms ( the snow , static ) are much worse.
Im at a loss . Help . thank you
Written by
laal
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I'm a bit confused. You say are b12 levels are very high but shes now started on b12 injections Had she been diagnosed with functional b12 deficiency? Hence benefitting from injections?
I'm sorry your doctors are baffled. Perhaps neurology referral is needed too. Get all the referrals you can. Remember they all work in isolation. I think it will be alot of tests to rule things out.
thank you - the way I read it is that she has enough B12 in her system however it is not getting to the cells probably due to an issue with the transcobalamin transporters , so she has a functional B12 deficiency ....already seen neurology they were no help they verlooked the elevated b12 , MRI head was normal .
An elevated b12 level is normally overlooked by most medics however with neuro symptoms it can be a sign of a severe underlying disorder ... not much info out there , keeping everything crossed that the hemotologist can shed some light
I am very confused. You say she has sky high levels of B12, low levels of hCys and low levels of MMA. All of which point directly in the opposite direction of a B12 deficiency.
So why are you giving her even more B12? It's extremely unlikely to do anything useful.
I presume she's seen a neurologist and that she's had her liver checked out (liver problems can result in abnormally high B12).
Oh, and MTHFR mutations are irrelevant to anything. With the possible exception of homozygous for C677T.
Has she been tested for Lyme as in a real Lyme test, not from Quest? We don’t absorb so that could be why she has high B12. My methymalonic is normal. My mom’s is high so I need her to test for intrinsic factor which I have.
laal glad that injections seem to help but your post is really off topic for this forum which is about problems with absorbing B12 and that doesn't appear to be the case here.I think your best course of action is to speak to the haematologist next week and rule out anything that might have lead to the elevated levels.
There have been some reported cases of elevated B12 levels due to use of energy drinks so if other causes of elevated levels have been ruled out it may be time to think outside the box.
If there is something going on that is genetic then you really need to talk to a genetic counsellor though the variants you mentioned aren't ones that are generally associated with problems with B12 ... and in any case that would be off topic for the forum.
As the post is off topic I am going to close to further responses
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