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Mitochondrial Help Please


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My son was checked for this through a spinal tap. Our neurologist did the test and she gave my son medication to relax him. He did very well through the procedure and his test results came back negative. It took six weeks to get the test results back. My son had quite a few of the symptoms so it was a relief for this test to come back negative. If you are going to have to go through this, I would suggest that you be checked for other genetic conditions that matches your symptoms. Ask your doctor about other possibilities. Wish you the best. Keep us posted.

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Guest wishing&hoping

I am going thru mito testing now through blood work. First test is amino acid levels; next step is genetic blood testing for various causes. My amino acid tests have been positive indicating that I'm not absorbing protein. Other possibilities are amyloidosis. Scary but at least a possible answer and treatment. Good luck!

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Wishing&Hoping - I was recently tested for amino acids and some came back very low. They noted this is likely from a low protein diet, but I eat meat so I don't know how that can be. Can you say which specific testing you're referring to? I think the main first test in Mito is lactic acid, but even when this is normal doesn't mean there isn't a mito problem. It seems complicated to get a diagnosis or find a Doctor who knows a lot about this.

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I think one of the issues with getting tested for mito right now is that it's such a new arena that even if you get a "negative" test back, it doesn't necessarily mean you don't have a mito issue....just means you don't have one of the ones they know how to test for right now.

Lots of exciting research going on in this arena but needs more to be done.

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  • 1 month later...

Mitochondrial Genes are those genes that effect your mitochondria. They can be inherited maternally in the Mitochondria itself or coded for by normal genes (nuclear) that code for things like amino acids used in the mitochondria. Thus asking if you have Mito is like asking if you have any Genetic illness. It is not that clear. If you rule one genetic illness out, or even rule out 100, you might have many more.

A doctor in this specialty, can tell you which tests to take as indicators and if these are significant what course to pursue.

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