British Lung Foundation
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G6PD and Hypercute Heart T Waves

G6PD and Hypercute Heart T Waves

Since my fall still not been feeling great bone pain and now feeling feverish when i eat.

Following MY private DNA test RESULTs indicate am suffering from G6PD a and b.

How many know about G6PD and DNA mutations and its HEART manifestations.

As picture illustrates guess thats why am at doctors a lot SO question is do i ask my doctor about testing and treatment given my DNA results even tho they might think am neurotic and suffering from Health Anxiety.


Here is RESULTs information.

Glycogen Storage Disease Type 1a and Your Genes

Glycogen storage disease type 1a (GSD Type 1a) is a rare metabolic disorder that prevents the release of glucose, the body's main energy source, from glycogen stored in the liver.

About one out of every 100 people with Ashkenazi Jewish ancestry carries a particular mutation known as Arg83Cys. Almost every person with Ashkenazi Jewish heritage who has GSD Type 1a has two copies of this mutation. Arg83Cys is also found in about 30% of non-Ashkenazi Caucasians with GSD Type 1a.

The SNP reported by the 23andMe Personal Genome Service® for GSD Type 1a is the same as the Arg83Cys mutation. This is one of the mutations included in standard panels of genetic disease tests offered to pregnant women, as well as couples considering pregnancy, who have Ashkenazi Jewish ancestry.

(If you are not a carrier for this disease marker you could still carry one of the other mutations associated with GSD Type 1a).

If two parents are unaffected by GSD Type 1a, but are carriers of the Arg83Cys mutation, there is a 25% chance their child will be born with the disorder. There is a 50% chance that the child will be an unaffected carrier for GSD Type 1a.

5 Replies

If you have bone pain and are feeling feverish I would suggest an appointment with the GP JAS. Please take care. :)

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Hi Cheers my clown gp was apost to do ecg and load blood test but the cancelled till next week.

Have started my emergency antibiotics and feeling tad better Ikeep forgetting after 12 weeks on maintenance ones i do have to rotate themas build up resistance.

But am going to see doc neurotic or not as i have had reaction to some drugs mentioned here.

Cheers thanks for reply concern

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Good link.

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Glad you are seeing your doctor JAS and wishing you well as always. Xxxxx


Sorry that you're still not feeling right. Go and see the doctor and, if you can, take a deep, calming breath before you go in.

I bet you can't wait for the day when you wake up feeling better. Take care. Sue xxx


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