Metabolic Analysis Profile (Genova Diagnositics)

Dear Everyone,

I had this test some time ago by sending off a urine sample and the results came back suggesting saying that I had a high need for Vitamins B1, B2, B7, B12 and Magensium and a need for digestive support as the malabsorbtion 'markers' were out of range?

I showed the results to my GP who didn't understand what it was all about and largely dismissed it as did my endocrinologist.

I did try the vitamin supplements plus things like digestive enzymes, pre and probiotics but nothing seem to improve matters but I just wondered if there is anyone on here who knows of anyone who may be able to fully interpret the results for me.  It's just that I am starting to get desperate as I am feeling quite unwell (extreme fatigue and lethargy) and even having problems with my balance (was referred to neurologist - all tests came back normal there incl a MRI scan of brain and spine) & basically there apparently is nothing else I can be tested for?!!!

(I'm on 125 mcg Thyroxine, 5 mcg T3 am and pm as I tested positive for the defective DIO2 gene & after an awful lot of persistence did manage to get that prescribed to me (3 years ago)) which has helped but am now starting to feel really ill now with this balance issue.

Appreciate any advice from anyone anywhere x

13 Replies

  • I am sorry you are feeling so bad. As far as I understand the defective gene DI02, you are unable to convert levothyroxine into T3. I am not medically qualified but I think your dose of 5mcg is far too small to be of much help to you feel well.

    Your doctor, due to you having the defective gene should test your Free T3. If the levo you take isn't converting at all to T3 I think you will have to get T3 only and no levothyroxine. However, another reason maybe that the combined dose isn't correct, i.e. 125mcg levo plus 5mcg of T3. 

    This is a link and maybe print it off and give copy to your GP or Endocrinologist, the first para on the left-hand column of page 80. It gives the combination which was found to be best for patients, i.e. 3 to 1. You might feel a lot better with this combination. It is a combination for patients without a gene defect too.

    Dose Selection in T3/T4 Study RCTs

    The second logical basis for a conclusion

    is the actions taken, i.e., the doses given to the

    subjects. Most subjects received T3 below its

    adult starting dose of 25 mcg/day.

    The sub

    jects in RCTs received T3 in some ratio to the  

    withdrawn T4. The various RCTs used T4:T3

    ratios of 14:1, 10:1, and 5:1. Subsequent research by

     the US National Institutes of Health  

    (NIH) found the therapeutic equivalence was


     Thus, most of the subjects were under  

    treated with the T3/T4 combination. In light

    of the NIH finding the conclusion that T3  

    therapy is never needed is invalid."

    I hope this is helpful and that your doctors will be co-operative in trying to help you feel much better and recover your health somewhat.

    (I am not medically qualified - I have hypothyroidism but I am now well).

  • Thank you so much for all of this very useful information - it is very much appreciated x If it's ok - I will write up a 'consolidated' reply to cover all the points raised by those who have replied so that I don't repeat myself x

  • B12 deficiency can cause balance problems (and lots and lots of other symptoms too). Has your doctor measured your B12 at all? If yes, could you post the result for us? If no, then I think you should ask for a test as soon as possible, along with folate, vitamin D, and ferritin.

    Another possible cause of balance problems is "gluten ataxia", which is worth googling. Do you eat gluten?

  • Thank you so much for all of this very useful information - it is very much appreciated - must admit - the "Gluten Ataxia" is interesting as I haven't heard of that before.  If it's ok - I will write up a 'consolidated' reply to explain my situation & cover all the points raised by people's helpful comments (so as to not repeat myself).

  • bbhill, 

    If your malabsorption markers are out of range and you have been advised to supplement digestive support, then you are probably deficient in many more nutrients and iron. Also a proportion of thyroid hormones are converted in the gut and without the right ecology this won't be happening.

    If you are low in B12, you are probably low in folate. Ask your doctor to test Vit D, folate and ferritin and post results complete with ranges (numbers in brackets) for members to comment.

    Supplementing Betain HCL with pepsin with replace the missing gastric acid caused by presumably low thyroid hormone. Adding digestive enzymes, bilary support and probiotics will give you more chance of recovering gut health and so absorption abilities.

    If you have the DI02 gene polymorphism you would probably benefit from 20mcg T3 and 75/100mcg levothyroxine on alternate days. Medicating more T3 will encourage better conversion of T4 and supplementing selenium will help further. 

    Most GP's and endo's do not understand the far reaching effects of mismanaged hypothyroidism or the essential requirements of optimal nutrient/iron and cortisol levels that good thyroid function demands.

    Pre medicating T3 I had balance problems and terrible brain fog which has all disappeared.

  • Thank you so much for your reply and this very helpful information - very much appreciated x If it's ok - I will 'write-up' a full consolidated reply to try and cover all of the main points that everyone has raised (so as to not repeat myself) x But thank you so much x

  • I don't know much about supplementing B vitamins, but magnesium can be absorbed through the skin, both in Epsom salt baths and as an oil spray that you put right onto your skin. So you may have better luck supplementing that way. I believe that to raise a deficiency you will want to do lots - baths most days and then a good deal of spray. For me the need for this causes a lot of stiffness and muscle spasms, so I am only too happy to go to the trouble and get the relief. 

  • Thank you so much for your reply and helpful information - very much appreciated x If it's ok - I will write-up a full consolidated reply to cover all the main points that people have raised (so as to not repeat myself).  

  • You're welcome, I hope some of this info gets you on the road to recovery. I think the silver lining with finding vitamin deficiencies is that at least you've got some solution, and you can treat yourself with confidence and get good improvements. 

  • Ok in my reasonably read opinion is, the so called D102 gene is not a defective gene think about this, there are more than T4/3 there are also T1/2 "T2 is needed to make deidonase(this so called gene) that enables the function to remove an iodine molecule, from T4 to T3 hence the problem" I'll bet if you get NDT which has T1-2-3-4 and calcitonin in, that so called defect will disappear, they call it that because they don't test for T1-2 again T2 is needed for deidonase production... 

    As for supplements their not all the same quality upon testing 100 Products 26% or 26 did not even have the ingredients in, and about the same % of others didn't have enough in for therapeutic benefits, never buy cheap when it comes to multivitamins. Hope this helps. 

  • Thank you so much for this very helpful information - very much appreciated x If it's ok - I will write-up a "consolidated" reply to cover all of the main points that people have raised (so as not to repeat myself) x But thanks so very much x


    Please read the above link to learn as much as you can about the seriousness of Low B12.  Scroll down for the signs and symptoms and you will soon realise that B12D is a neurological condition if not correctly diagnosed and treated.  If you are taking a Multi-vit containing B12 - it will not be enough to make you well but it can be enough to skew any result of a blood test your GP may do.  You need B12 around 1000.

    The Serum test is only a guide and there is also the Active Blood test for B12 .  Details in the above link.  Look at the videos under the heading Films to really see the impact of this very common deficiency.

  • Thanks so very much for this very useful information - very much appreciated x If it's ok - I will write-up a full "consolidated" reply to cover all of the main points raised by everyone (so as not to repeat myself) x  but thanks so much x

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