Have you been diagnosed with mitochondrial disease?

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There is a lot of research on a higher incidence of mitochondrial disease in autistic populations. It doesn't seem to attract much attention in ASD communities though, and I'm curious to know more about it from people who have it. For anyone who wonders what it is, mitochondria are instrumental in energy production (roughly speaking) - they are the "heavy lifters" in a chain of processes by which the body generates energy.

If you have been diagnosed with this, and would be willing to share your experience, I would be very interested in hearing about it - how was it identified, how long did it take, how was it treated, what difference did that make for you, what are you thoughts about it generally?

Here is a brief summary of what mitochondrial disease is and how it related to autism and other conditions:

http://mitochondrialdiseases.org/related-diseases/

Hmmm.. the incidence of Mitochondrial Disease in ASD populations is reported as 5% (with good confidence limits).

http://www.ncbi.nlm.nih.gov/pubmed/21263444
A lot of other research has come up with similar findings. 5% of the WP membership is quite a few people.
So I am perplexed. The non-response here could be due to various possible factors:

- complete unawareness that any link exists at clinician/GP level so diagnosis is never matched with symptoms by the ASD population or medical personnel who treat their medical issues;

- no attention is given to these kind of studies in the media, they aren't "sexy" or part of the current fashion, so if 5% have MD, these findings flew completely beneath the popular radar;

-the researchers in all studies got it wrong, there is no link, it is factitious, a result of confounding variables.

One researcher suggested that the higher incidence of mitochondrial disease in ASD populations can be contrasted with the undiagnosed diabetes in the community, ie a lot are missing recognition, diagnosis and treatment.

I haven't finished formulating my own view of this yet, the search continues....

and another reason: the comprehensive tests needed to diagnose MD - this link explains the tests and diagnostic process.

http://www.umdf.org/site/pp.aspx?c=8qKO ... &b=7934633

I would bet that many people are looking at your link now. I looked at it.

Intriguing.

Like the link stated, this is not very well-known amongst physicians.

To me, the link seems to be saying that "mitochrondrial disease" is a general entity which could give rise to such things as Parkinson's, autism, Lou Gehrig's Disease, Alzheimers, Chronic Fatigue Syndrome, etc. That there is a systemic dysfunction which causes more specific dysfunctions.

You are right. Where the discussion is happening is between scientists who research molecular biology. The medical profession is, on the whole, not interested in basic molecular research of any kind, only applied research which is a later development, and the current fashion is fMRI neuroscience, not fields like this one, even though it was the molecular biologists who made the exciting breakthroughs to recognizing and understanding epigenetics, and opening up a whole new discipline with immense potential for transforming human lives.

I think there is something of interest to ASD populations in the research, very probably with some applied potential.

Sounds expensive and rare (doctors being advised, "don't look for a zebras"). I was diagnosed with dysautonomia (heart effects, mostly) ten years ago and mitochondrial disease or testing was never brought up. There was only one test done (EKG, basically), so there was nothing to rule mito. disease out. It was just never brought up. I wonder if there's no treatment and so the tests are seen as meaningless unless it's severe/life-threatening?

Interesting. From what I have read, there are treatments, though it's certainly a speculative area. An amino acid (carnitine) has been mentioned in a number of studies, and another (arginine) - another amino acid -occasionally, as well as magnesium. There are suggestions that these may be fundamentally lacking because of innate physiological dysfunction of the mitochondria in MD. The amino acids are important to health generally, as the body relies on these proteins to make new cells/replicate DNA and other essential functions. None of these are available for patent as they are naturally occurring substances, so there will be zilch interest by Big Pharma. And in those cases there is usually little interest by the popular media, because they rely on a lot of public relations info from pharmaceutical companies to fill the health news columns. I will look at treatments discussed by the MT foundations to see if I can find out more about any proposed or actual treatment protocols.

Beyond the following suggestions, there is no treatment protocol so far as I can see.

Vitamins and Supplements That May be Helpful**

**Consult your physician before starting any of the following possible treatments**
First Tier Supplements
Supplement
Dose Range
CoQ10
5 – 15 mg/kg/day
Levo-carnitine
(Carnitor)
Variable, starting dose of 30 mg/kg/day, typical maximum of 100 mg/kg/day
Riboflavin (B2)
100 – 400 mg a day


Second Tier Supplement
Supplement
Dose Range
Acetyl-L-Carnitine
250 – 1000 mg per day
Thiamine (B1)
50 – 100 mg a day
Niacin (B3)
50 – 100 mg a day
Vitamin E
200 – 400 IU; 1 – 3 times a day
Vitamin C
100 – 500 mg; 1 – 3 times a day
Lipoic Acid
(a -lipoate)
60 – 200 mg; 3 times a day
Selenium
25 – 50 micrograms a day
b -carotene
10,000 IU; every other day to daily
Biotin
2.5 – 10 mg a day
Folic Acid
1 – 10 mg a day
*Back to Top*

Medication, Minerals, Vitamins and Substrates that May be Helpful**

**Any use of the following medications, minerals, vitamins and substrates MUST be made only under a physician's direction.**
Supplement
Dose Range
Calcium
Variable
Magnesium
Variable
Phosphorus
Variable
Succinate
6 gm per day
Creatine
5 gm bid after initial load (adults)
Uridine
To be determined
Citrates
Variable
Prednisone
Variable
Vitamin K3
5-30 mg per day
*Back to Top*
Avoidance of Physiologic Stress

Physiologic stress is triggered by external factors that may result in worsening the metabolic situation, which may result in temporary or permanent worsening of the condition. It is impossible to avoid all physiologic stressful conditions, so one should not attempt to do so. However, recognizing what may be stressful for patients allows one to adjust the lifestyle. Many patients and their parents have already identified these stresses, despite not knowing why the stresses were important, and avoid them.

Cold Stress is extremely important. Thermal regulation (temperature control) is not always normal in people with mitochondrial diseases and exposure to cold can result in severe heat loss and trigger an energy crisis. When going out into the cold, all exposed body parts should be covered, and exposure to extreme cold should be avoided for anything more than a short period. Over bundling can be a problem too (see below).

Heat Stress can be a problem in some people. This is especially true of those with an inability to sweat normally. Heat exhaustion and heat stroke may occur on hot days. It is typical for parents to describe that their child seems to "wilt" in situations like hot classrooms or direct sunlight, whereas the other children function normally. Light clothing is important. Patients should avoid direct sunlight on hot days and stay indoors if it is too warm outside. An air-conditioned environment may be needed.

Starvation — avoid fasting.

Lack of sleep may possibly be harmful.
*

Interesting. Thanks for the information B19. I'm going to dig into this.

I'll be interested to hear how it goes. My interest in this is mainly academic - the cases identified are much higher in ASD population than others, and significantly so. The reasons for this are far from clear as yet. And the ASD population don't seem to have been made aware of this, as yet, and I wonder why this hasn't happened. For some, it may be a very important avenue to explore.