I’m asking some advice for my friends daughter who I’m convinced has a b12 problem.
5 yrs ago she was very ill and diagnosed with CF( (all started after a trip to Africa). She then started having awful migraines and has been rushed to a&e a few times as they thought she’d had a stroke but drs said it’s the migraines (lost feeling down one side of her body). She now feel nauseous 24/7 and had lost loads of weight.
Last year her serum b12 was 177ng/l but gp wouldn’t treat as range started at 170.
Had a retest 3 mths later and it was 196 so gp said fine definitely not b12 as it had increased.
Now she is 18 she just had private tests at Viapath
Serum b12 is now 300 so gone up.
Active b12 was 128 over the top of the range (top was 112)
MMA was 110 ( in range top was 150)
Homocysteine was 12.5 ( top range 15)
Folate was 10
She hasn’t taken any supplements or had any injections and she is hardly eating so all very confusing as to why serum levels have increased.
Does the fact her active b12 is above range suggest it’s not being used ? could this be something to do with the mentyl gene? (I’ve read stuff about MTHF mutations but don’t really understand it).
There is also b12 deficiency on the female side of her parental grandmothers family.
Can anyone advise please.
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Vicky2822
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No. MTHFR cannot affect the levels of B12 in the blood.
If the B12 wan't being used up because of a lack of methylfolate then the levels of homocysteine would be very high.
Boring bit - both B12 and methylfolate are needed to get rid of homocysteine. MTHFR is an enzyme that make methylfolate. But the mutations you've read about dont stop MTHFR from working, they just reduce its efficiency. The body compensates by making more of the enzyme.
I would go see a GP about your concerns. They should do some blood tests for liver and kidney function.
It sounds like her absorbtion is working OK but that maybe she picked up a horrible pathogen while she was in Africa.
It could be worth getting a referral to one of the foreign and tropical diseases centres in this country in case she still has a parasite or infection that needs specific treatment for cure.
the ratio between active and serum is unusual - its usually about 20% - this might indicate a metabolic problem - genetic and somewhat off topic for this forum. There are a number of genetic variants that affect how efficiently processes that use B12 run - unfortunately there aren't any obvious specialists in relation to B12 metabolism that you could be referred to - the general specialisms relate to B12 absorption problems and B12 deficiencies but not to B12 metabolism in general (which we are still quite a long way from understanding properly).
The MMA and homocysteine results imply that there isn't any B12 deficiency going on. Generally a genetic problem would be associated with one of these being significantly elevated.
I'm not medically qualified and sorry that I can't help you more.
She needs more investigations. Hope she keeps pushing g for specialist referrals and like Deniseinmilden says ton get tested for tropical diseases too. Her b12 defiency might be due to malnutrition if nauseas . Or an autonomic disorder?? Hope she gets some answers soon
One potential sign of fish tapeworm infection is an increase in eosinophils, a type of white blood cell. Eosinophil result can be found on Full Blood Count results.
Another parasite associated with B12 deficiency is Giardia Lamblia.
Link about "What to do next" if B12 deficiency suspected
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