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Mitochondrial Disease Help Please

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i was wondering if anyone could help me with Mito. I have POTS / Gilbert's Syndrome / GERD & 1st degree AV Block..A Dr from the mayo clinic said she suspects it could be Mito or metabolic ....i have had an extensive workup outside of those 2 areas from head to toe..they cant find whats causing my POTS...i am having terrible burning pain in my arms and legs all day long and it wont stop...not necessarily weak just very bad muscle burning ....they have just started some simple blood tests for mito and i was wondering if anyone can be some help as if it has any significance or links to mito ? or if anyone can tell me how there bloods compared....i have lost 30 pounds in 7 months and my wedding is next month so me and my family are in desperation mode ...we have been to NYU - Presbyterian and Mount Sinai no 1 can pinpoint whats going on... here are some results i just got back the other day...as i know none of us are doctors i am just asking for opinions or comparisons to other that might lead me in the rite direction

Amino Acids Plasma

High threonine 226
High Glutamic acid 171
High Proline 455
High 3-Methyl-Histidine 2.1
High Ammonia 43 Blood
Low Copper 63 Blood / Always Low
Low Vitamin D 26.6 Blood / Always Low

Normal Hematology
Normal Chemistry
Normal Urianalysis
Normal Thyroid
Normal B12
Normal PET/CT of the brain

i am so sorry for the long Post....we are just lost at the moment.
If any 1 could provide help or guidance it would be much appreciated.
If you need any other blood urine or scans i probably have them and can give the results but these are the ones that might relate 2 Mito.

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Not sure what to make of most of this stuff, not to mention that I am not familiar with mito, but your vit D is on the low side. Perhaps you should discuss supplementation with your dr.

Also, the fact that your ammonia levels are high might be the reasons why you complain about memory issues/confusion/brain fog and what not (I remember you mentioned these in one of your previous posts). With high blood ammonia and amino acids, I'm thinking a liver specialist?!

Best of luck and keep us posted.


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You have mildly increased levels that could be attributed to a metabolic disorder. However, these results can mostly be explained by the diagnosis of Gilberts disease...a condition that does involve a mild degree of metabolic dysfunction. Elevated ammonia is a findingf associated with many metabolic disorders including organic acidemias, urea cycle disorders, fatty acid oxidation disorders and some Mito disorders. However, liver disease can result in mildy increased ammonia levels as well. Given that your level is only mildly elevated, the likelihood of it being abnormal due to a metabolic disorder is fairly small...though possible. Same goes for amino acids. You did not have a pattern consistent with Mito.,,for example your alanine level was not elevated. Again though, your test could be 100% normal and you could still have Mito.

the whacky kevels could be partially affected by a b6 deficiency.. you could ask your doctor to test your levels.
good luck!

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