Mitochondrial Disorders And Pots - Anyone?

[POTLUCK]

I saw a mito. genetics doctor last spring due to elevated CK and ammonia, and slightly decreased free carnitine as well as mild elevations of short-chain fatty acids on acylcarnitine profile. I recently had another acylcarnitine profile, just before tilt test, that showed additional mild elevations of C-2, C-16, C16:1-hydroxy, C18, C18-hydroxy. I wrote to him and he suggested I may want to make an appointment and have a skin biopsy and in vitro fatty acid oxidation probe.

Does anyone know anything about these things?? Any and all info appreciated.

[ramakentesh]

Not really. increased ammonia was reported in some EDS patients? the guy I knew with Mito and POTS had severe fatigue as his number 1 symptom.

[issie]

The doctor I saw at Mayo, said he does feel that some of his POTS patients have mito issues but, there are so few test that they can do in relationship to those issues and he feels there are so many other possible mito issues that they can't test for. He said the few that he went ahead and tested for didn't have positive results. But, the symptoms seemed to point to that as one of their issues. He says that it doesn't hurt to try to support those issues, but finding it - is not easy. He thought there was a possiblity with me - but, didn't think that the test would be conclusive enough and the expense would be very high. So, I'm supporting myself with natural supplements - and do seem to be doing better.

I don't know about the specific things you listed.

Issie

[Chaos]

There are several members here who have tested positive for Mito issues. My local cardio wanted me to be tested but the neuro I saw at Mayo (same one Issie saw) didn't feel it was worth while. Said even if I tested positive at this point there isn't any treatment that really works for people.

Maybe some of the people who are seeing the mito specialists and have had the biopsy will have better info for you.

[POTLUCK]

The Acylcarnitine profile seems to have had some impact on the genetics doctor..

I alwyas wonderes as my CK (CreatinePhosphokinase) has always been 2-4 times normal, which is not alot compared to some muscle disorders etc. but is clearly not normal. I am really hoping someone can tell me about these skin biopsy and in vitro fatty acid oxidation probe.

[issie]

I don't have an answer potluck - but, I wasn't able to take acetyl-carnitine because it does seem to cross the blood brain barrier and it caused me to have headaches. I could take L-carnitine which deals with the muscles more. But, right now the carnitines are too stimulating to my sympathetic system. I also can't do CQ10 right now either. I'm trialing PQQ, but finding that I can only take 1/3 of a cap every other day - it will hype me for a few hours and then it settles out and gives tons of energy. But, hoping it will settle out with a little more time. I found a site where some body builders were talking about it and they said they needed way less than what is in a cap also and they didn't feel they needed it every day either. When I was trying to take it every day - it and some other things caused me to crash. So, taking it much slower. It is supposed to boost mito and neuro transmittors.

Issie

[tinkerbella]

Hi POTluck,

I'm a mito and potsie ~ I sent you a bunch of info ~ http://www.mitoaction.org/search/node/mitochondrial+biopsy

mitoaction is a wonderful site to search anything that they have done a conference on. Just put what you are

looking for in the search bar and what they have will come up. You can listen to info or read it. I'm having a

problem getting insurance to pay for my cocktail . I haven't had one in a bazillion years. lol ~ Also, My chain

is complicated right now. I do believe that everything will work out, or there is a bigger plan for me to learn to

help other's how to get their's, so we can have one big cocktail party together ~

Right now all I can afford to buy is a round of hugs for everyone ~

xxx's

Bellamia ~

[tinkerbella]

Issie ~

Were u taking them compounded? That is how my cocktail is written. We are still working on trying to get it paid $900 dollars a month. I'll compound it for free ~ I have a hammer ~ lol ~ We must laugh ; ) i was told when I do get mine, u only take it small amounts at first. I know

it's gonna come. I can see it in my mind ~ Kinda like you must visualize the parking space , before you get there.

BellaMia ~

[issie]

No, not compounded - can buy them cheaper and pour them out of the caps into empty caps and figure it out myself. I need very little of anything - my body is super sensitive to things. I have some l-carnitine in liquid and plan to see if thats better - but, haven't had the nerve to try it again - yet.

Issie

[tinkerbella]

Good Luck Issie,

I'm super sensitive too ~ Doc said it will only work right if you actually have it. Very frustrating

[shoegal]

I may have a FOD as well, did the lab result say which ones you may have? they should as every elevated acylcarnitine is linked to different disorders

a change in diet and carnintne may help (the script version)

[tinkerbella]

Shoegal,

Is FOD, a cpt1 disorder as well? I'm finding it so confusing WHERE I GO HAS NOT SEEN MY LONG CHAIN. I need to get more notes when I return to the doctor. Essential fatty acid co2 disorder of the LONG CHAIN OF THE MITO. First I didn't believe anything was wrong (denial) even though I WAS SO SICK, even had

to be admitted for all tests. Muscle bio is 20,000 dollars, so you really have to prove to have a case before they will do it. Did you have a

biopsy? My whole leg is around the incision site is hard as a rock. Got infected...hurt soooo BAD. I got sent back twice, as the

doc and nurses @ HOME thought I had a blood clot. There was a hematoma under there. I came back very high#'s. The hospital had

never seen this before, but I have all the family history and all the markers in myself.(multisymptom involvement) I don't know

where to find a local FOD group to talk to. Will see nutritionist soon.

MEANWHILE:

I'm losing weight very fast, anemic, sooooo tired,Cramps so bad, all the severe pots stuff & more, but in my heart I'm still that

girl who's the life of the party making people laugh right out loud.

I want her back. Bellamia ~

Here's a helpful link ~

PS: I DON'T KNOW WHAT HAPPENED TO THE MORE OPTIONS TO WRITE HERE?

http://www.emdn-mitonet.co.uk/PDF/COHEN701MitoAdults.pdf

HAVE A GREAT DAY ALL POTSIES & MITOIES ~ XOXOXO ~

[issie]

Bella,

Thanks for the link on mito issues. My doctor had me doing high doeses of CQ10 and carnitine at one point. I tolerated them a few years ago, but now find them to over activate my sympathetic system. At that time, I was so bad - I couldn't get up out of a chair - had really bad ataxia and was really a mess. I couldn't tell that the supplements helped that much. I've been afraid to try them again. The one I'm trying right now is called PQQ - but, I can only tolerate 1/3 of a cap. It seems that anything that works on energy systems - over activates me. But, finding that it does give me a boost of energy and helps some with the brain fog. Unfortunately, some of the things listed in the article are in my family - like hearing loss and strokes and brain dysfunctions, diabetes and a whole bunch of other things. It's pretty scarry to realize that all of it is USUALLY genetically passed on (but, not always - as there can be drugs and toxins create it). So, it's just another frustrating piece to the puzzle of complicated things. Isn't it?

Issie

[tinkerbella]

It sure is ....got to nap now....back latter. Keep ing.

[shoegal]

the biopsy was +?

now they do DNA testing, not cheaper though

I have an issue not processing ketones, which could be linked to a FOD or just another disorder, all under the umberlla of mito

[tinkerbella]

I got the whole package,

with out a bow on top ~

BellaMia ~

[sugartwin]

My doctor told me he felt I had it due to all my GI troubles and low CoQ10 levels, but would not test me, much to my consternation. I take a mito cocktail: Large doses of CoQ10, Carnitor (prescription l-carnitine), alpha lipoic acid, vit b6... When I tried to cut them out due to money problems? Woe to me. I found myself housebound again. So I think he was onto something. Too bad we'll never know.

For those interested, many in the mito community report having hypermobile joints and a mito doctor at the Cleveland Clinic is beginning to send his hypermobile patients to the geneticist who specializes in connective tissues there. Something to think on.

[issie]

sugartwin,

Would you give the amounts of each thing you take? I tried some of those things years ago - but, not in awhile. Thinking I need to try it again. Interesting that they are finding those with EDS as having mito issues. The doc thought it was part of my problem. I do too, have give away weakness with any amount of exercise. I keep trying to push through it, but, not being able to get very far. Still trying though. But, the amount of exercise I am able to accomplish is helping me at least emotionally to feel better.

Issie

[sugartwin]

Hi issie,

I take 1200mg of CoQ10 each day. It's expensive! I take 990mg of l-carnitine, 900mg of alpha lipoic acid. I misstyped, not b6 but b2 and 200mg twice a day.

It's on both sides. Mito patients with EDS and EDS patients with mito. (More of the former, probably because their docs are actually paying attention.) If you put your ear to the ground in the mito communities, there's a few discussing it but they don't seem to quite understand it, saying things like "If you have EDS, your dysautonomia stays the same." and "People don't get very sick from EDS."

FALSE.

In my fondest dreams, were just sisters from another mister and I never have to hear the words "benign hypermobility." again.

[issie]

Well, I know EDS is a major player in regards to me. I don't know how anyone that has it could possilby not think it causes issues. Maybe, as a youngster and before all the arthritis and aches and pains. But, it's something you can't - not notice. And then put a little mito dysfunction on top and sprinkle in POTS and you got a really good brew going. LOL Then for me there's autoimmune issues too.

Thanks for the amounts of what you take. Do you find it makes much difference for you?

[Annaliese]

I had a urine analysis done and was found to have problems with ATP production and also ammonia toxicity. Aparently urea cycle disorders can develop in women after a stress event. Im gonna see a geneticist about this.

[POTLUCK]

" I may have a FOD as well, did the lab result say which ones you may have? they should as every elevated acylcarnitine is linked to different disorders

a change in diet and carnintne may help (the script version) "

I can not tell you which FOD, the automated lab result did not suggest one. ( I have had elevated CK, over 10 of them, almost always comes out 2-4x normal, and ammonia runs higher than normal range, and slightly decreased free carnitine) I saw a mitochondrial genetics doctor last spring. ( I did not know I had POTS at the time I just knew something was wrong cognitively, and DM, Hypothyroid, TLE are all common with mito disorders plus the lab abnormalities above are common indicators.)

The doctor tested the above along with lactate (normal) and Acylcarnitines ( his report said "mild elevations of short-chain fatty acids on acylcarnitine profile." ) He tested for SCAD gene. He did not feel it was the cause of my problems, but did not know I had POTS then either. He said it shows if you have it 80% of the time. I tested negative. I recently had another acylcarnitine profile, just before my tilt test This acylcarnitine profile showed additional mild but bove normal, elevations of C-2, C-16, C16:1-hydroxy, C18, C18-hydroxy.

I wrote to him and he suggested an appointment and to have a skin biopsy and in vitro fatty acid oxidation probe. I called for appointment. I do not know anything about these tests and what they entail.

If I may ask have you had either of these tests, and what results suggested "an issue not processing ketones" if you do not mind my asking? Feel free to PM also. I wanted to have my results on here in case anyone can tell me anything about these things.

Oh, and you mentioned the Carnitor, I am on it 30ml/day. He put me on it in the spring.

Thank you Shoegal, and everyone for the info. and thoughts.

[POTLUCK]

Rereading my post, I noted that although he did not feel the SCAD (ACAD) was causing my problems at the time he was certain I had an SCAD deficiency, prior to the genetic test. Now the acylcarnitine profile is also showing longer chains, as named above, so I do not think he would feel it is a SCAD ( Short Chain Acyl-CoA Dehydrogenase Deficiency ) but I donto know.

[sugartwin]

Thanks for the amounts of what you take. Do you find it makes much difference for you?

The 'mito cocktail' I take is at least as necessary for my daily function as my florinef and beta blocker. When I tried to go without them, I ended up housebound, almost bedridden. They take time to build up and leave the system I find, especially CoQ10 and L-Carnitine, so if you try them give them time, like a month at least.

[issie]

Thanks sugartwin - good to know what you're doing and that it is so beneficial to you. I know you've had a time with EDS too.

Issie