Confounded by two different results for MMA test. One negative, one positive

[Noelnoel]

About six weeks ago husband took a Medichecks MMA test. It was over range (positive)

In a way I was relieved by this because it meant that now we knew what we were dealing with and what to do about it. However, GP was clueless and referred us on to a specialist in Cambridge, who five weeks after the Medichecks MMA, ordered an NHS

IFa

Serum MMA

Both negative!

His last and most recent MCV about 3 months ago was high in the range

Now I know IFa is unreliable but what about MMA?

Have only just collected the lab reports after receiving a text saying all normal but what now?!! One positive and one negative MMA, plus an unreliable negative IFa will, I know, result in GP saying: nothing further to do

A bit of background:

He did the private MMA because his haematologist - who he sees for a separate condition - wasn’t concerned about low B12 and folate even though we told him husband had been supplementing for months and therefore of course the test would show improving levels. Nor was he concerned about ferritin levels that were so low they were only just with the reference

Since reading more and more on this site and elsewhere I’ve become increasingly suspicous of his symptoms. Mainly:

All night long twitching/jerking movements. Not just as he’s dropping off, which is something we’ve all done from time to time. This has been going on for 20+ years

Despite supplementing and getting serum B12 up to 600 or so, ref (211-911) he still has:

Strange jerking/twitching movements all night. He’s unaware of it but it disturbs my sleep and I imagine his too because he wakes unrefreshed and falls asleep on the sofa in the evenings

Breathlessness, which has improved since increasing iron supplements

Lacking in motivation and energy

The last two could be attributed to his very low ferritin - which was as low as it could be without being outside the ref range - but I’m suspicious that the nighttime twitching is neurological. We’re aware that his current respectable serum B12 levels are not a good indicator of the reality

Thyroid panel is also slightly deranged but we knew it would be so he’ll be seeing Dr Sarah Myhill in January for help with that

Grateful for any insight into what might be going on for him and also guidance on how to approach getting satisfactory advice/further investigations

Off the back of his Medichecks MMA I’ve been researching sc B12 and was going to order methyl and adeno but now I’m unsure. I think ultimately, even if doctor doesn’t want to investigate further, he’ll commence sc B12 but I’d rather have their support on this

Thank you

Cambridge consultant advised no B12 supplements a week prior to testing but husband hadn’t taken anything for several weeks for both positive and negative test

[Nackapan]

I would push for a referral to a neurologist. The Jerky twitching movements should be investigated.

Perhaps take s short video for them.to see .

The other symptoms do sound like low ferritin /iron.

[Noelnoel in reply to Nackapan]

Thank you Nackapan

We’re going to try to get clarity on whether on not this is PA and will have to consider a neurology referral if it’s conclusively not PA

[Nackapan in reply to Noelnoel]

I saw a neurologist symptom related .Caused by b12 deficiency.

[Noelnoel in reply to Nackapan]

Sorry, I don’t understand your statement

[Nackapan in reply to Noelnoel]

I was answering you wernt considering a neurologist if confirmed PA .I saw a neurologist for my symptoms which included a brain MRI .

I.e even if confirmed PA s neurologist might be needed

[1Cazza]

My ferritin goes down all the time am allowed infusions at 50, at 30 you are already empty. I also get muscle twitches when it's low even at 60 and terrible at 10. They happen all the time worse at night. Seek a second opinion, I would also do another private MMA and if that comes up positive would ague that the NHS one was incorrect. Errors do happen.

[Noelnoel in reply to 1Cazza]

That’s really interesting to know. I hadn’t considered low ferritin could also be the cause of his twitches. Thank you

Are yours throughout the night or do they settle at some point? Do they stop after your infusion? So sorry to hear that you suffer with this. It must be debilitating to have them all the time

[1Cazza in reply to Noelnoel]

They happen anytime, and yes went away completely after infusion. Not saying B12 is good either, I have B12 injections done off a MMA blood test.

little bit dark sorry

[Noelnoel in reply to 1Cazza]

Your labs certainly ant least indicate PA wouldn’t you say?

[1Cazza in reply to Noelnoel]

yes I think so

[Noelnoel in reply to 1Cazza]

Medichecks is methylmalonic, NHS was methylmalonate. Are they different

[1Cazza in reply to Noelnoel]

I am sorry I do not know, hopefully someone else will

[Noelnoel in reply to 1Cazza]

Will do a new post asking the question

[Mixteca in reply to Noelnoel]

Did he get a full iron panel done as ferritin levels low?

[Noelnoel in reply to 1Cazza]

Will also be doing a repeat MMA

Do you have PA?

[1Cazza in reply to Noelnoel]

never been diagnosed as PA but think so. I had years of different symptoms, including not being able to feel my legs but it came and went and think I hovered in the grey zone.

[Nackapan in reply to Noelnoel]

PA is notoriously difficult to diagnose ad no definitive test. B12 deficiency caused by an absorbtion problem needs the exact same treatment .

[Noelnoel in reply to Nackapan]

I’m learning that it’s not easy and what I’m also learning is that our GP knows even less than I

[Gambit62 Administrator]

MMA isn't specific to B12 deficiency and can be raised by other things, mainly kidney issues. If you have raised MMA and creatinine but the ratio between the two is in the normal range then that would point to B12 rather than kidney issues.

An MMA result just above the normal range would also be seen as inconclusive as it is expected to be well above range if B12 is the cause.

That doesn't mean that B12 isn't an issue. If you have a series of serum or active B12 tests showing a significant drop over time that would indicate a B12 absorption problem.

Unfortunately single serum B12 tests are very difficult to interpret and negative IFAB is a long way from ruling out PA as a cause of a B12 deficiency, but to be clear, it isn't a test for B12 deficiency.

Supplementation can affect serum B12 results for months so that may also be clouding the test results.

[Noelnoel in reply to Gambit62]

Hello Gambit

If you have raised MMA and creatinine but the ratio between the two is in the normal range then that would point to B12 rather than kidney issues

Yes, I’ve read this somewhere. How is the ratio calculated, do you know?

Had no idea his might be considered inconclusive. <32, his is 34.7. Not enough over range?

negative IFAB is a long way from ruling out PA as a cause of a B12 deficiency

Is that because it has a tendency to show a false negative?

but to be clear, it isn't a test for B12 deficiency

No, it’s a test for diagnosing PA, correct?

Supplementation can affect serum B12 results for months so that may also be clouding the test results

Really?!! Medichecks instructed a week!

Thank you so much for your input

[Gambit62 Administrator in reply to Noelnoel]

I'm not sure what the normal ratio is - it would be part of a kidney panel. I don't know what the ratio is and it might vary slightly from lab to lab anyway depending on how machines used for testing have been calibrated.

Negative IFAB doesn't rule out PA as the cause of a B12 deficiency because it isn't very sensitive so gives a very high number of false negatives.

IFAB is, indeed, a test for PA.

My guess would be that whoever advised you that a week would be enough time to refrain from supplementing B12 probably hadn't checked or misread the testing details. It seems to be something that comes up quite regularly with medichecks though.

[Noelnoel in reply to Gambit62]

Thank you for speedy reply and confirmations

I actually emailed Medichecks to be sure we got it right and it was they who said a week

[Spritze]

Noelnoel If you have a Nuffield Hospital near you see if they offer Pathology Direct services. My local one will do MMA for £74 which includes the draw. They accepted my Medicheck report recommending an MMA as 'the referral'.

[Noelnoel in reply to Spritze]

We do, so that’s useful to know. Thank you

They accepted my Medicheck report recommending an MMA as 'the referral

Why did Medicheck recommend this? Did you not take an MMA test with them?

[Jillymo in reply to Noelnoel]

Hi Noelnoel,

You also need to take on board our antibodies wax and wane hence as to why most tests are unreliable where autoimmune conditions are concerned. If Gps and consultants are being dificult it might be prudent to remind them of this ! It's a long road that we tred but I hope your hubby gets some answer's soon. 🤞

[Noelnoel in reply to Jillymo]

That’s a very good point and one to bear in mind and mention. Ridiculous how alert we have to be their mistakes and gaps in knowledge

[Spritze in reply to Noelnoel]

Hi Noelnoel I had an Active B12 with Medicheck which was low so they recommended I have an MMA. I shopped around and found my local Nuffield would do MMA for £74 all in instead of the Medicheck quote of £149 plus draw...

[Noelnoel in reply to Spritze]

Right. Yes, it was an expensive test and I’m unsure why Dr Klein (the Cambridge specialist) repeated the test for my husband with an NHS one. It seems strange given that he recommended months ago that my son take the Medichecks one. If he doesn’t trust the test, why recommend it

Really grateful for the Nuffield recommendation. We may have to use it

[Noelnoel in reply to Spritze]

Ok, thank you

[NJPoet]

The same thing happened to me. I first tested positive. However, I was told that because I was receiving B12 injections the test was probably inaccurate. (Labcorp claims it would not affect the results.) Last spring, after a few months without B12, I retested. Lo and behold, the results were negative. So, I’m lost and confused myself. Le sigh.

[Nackapan in reply to NJPoet]

I would print off the positive test.

It's possible for a false positive if b12 levels high know the blood.

Much higher % of false negatives though!!

But why do it if results arnt believed.

Or do it before Injections started ??

[Noelnoel in reply to NJPoet]

And we don’t need confusion do we, we need to get on and treat the problem. All the delays are frustrating