Mitochondrial Disease

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Does anyone have a mitochondrial disease?

Mitochondrial disease is one defined cause of autism.

After seeing specialist after specialist, my mother was finally diagnosed with an extremely rare Mitochrondial disease that runs in the family. The symptoms range from nonexistent (Grandma) to debilitating (Mom and Uncle). Still, nobody else but me shows any major spectrum traits.

Noca, I'm still in the testing process. My neurologist suggested it over a year ago. I'm seeing a world-renowned mitochondrial expert next month to sort it all out (in Atlanta, GA, United States). I'm very glad that you do not have one of these!

GiantHockeyFan - would you mind telling me which mitochondrial disease runs in your family? There are some specific ones that are more suspect for me, so I would love to hear any prognosis/life stories of those with any mitochondrial diseases. Thank you.

Noca, where can I find information about the treatment regime you mentioned?

I thought perhaps it was in the link you posted, but I didn't see it. The two most suspicious ones for me are listed in there though (MELAS and MERRF). I think I could emotionally handle knowing I have MERRF; knowing I have MELAS is pretty much my worst nightmare (and what my neurologist thought I might have). I'm working on trying to accept it is a possibility though.

I knew MD was a co-morbid for some people on the spectrum though AFAIK it is not a cause of AS conditions, so have you read or heard claims that it is causal, and if so where are they and what is the evidence?

Let me see if I can find where I read that.

What does AFAIK mean?

Here is where I read it. I have not read the studies referenced here.

"Although several studies completed by a group in Portugal in 2005 & 2007 suggested that 4.1% of patients with autism had underlying mitochondrial disease, rendering it a rare but definable cause of ASD, a recent study out of UC Davispublished in the Journal of the American Medical Association (JAMA) in November 2010, suggests a much stronger link between autism and mitochondrial dysfunction. The authors report that children with autism are far more likely to have defects in their bodies’ ability to produce energy than typically developing children. The study discovered widespread reduced mitochondrial enzyme function among the autistic children. Complex I was the site of the most common deficiency, found in 60% of the autistic patients, and occurred five out of six times in combination with Complex V."

http://vmpgenetics.com/resources/autism/

(As Far As I Know)

The Wikipedia page on MD doesn't mention AS at all though has some interesting information and links. I think it claimed that only 1 in every 4000 children were born with MD. If that's accurate, it doesn't seem to fit well with the incidence of children born with AS, so the causal claim looks shaky from that perspective.

I would easily believe though that the incidence of MD could be higher in AS populations than neurotypical populations, just as coeliac and many other illnesses are.

1) Wikipedia isn't always the most up to date (or most accurate) source.

2) No one is claiming a 1:1 ratio.

Thanks Noca, the specialist I'll be seeing also has a supplement treatment regime. I was simply curious, I'm waiting on my results and her recommendations. (And, mostly just hoping I don't have mitochondrial disease at all.)

Hi there,

There are a lot of different mitochondrial disorders out there, and some of them are definitelyI have MNGIE which stands for mitochondrial neurogastrointestinal encephalopathy. I've read that mitochondrial disorders are rare in the general population (obviously!! ! so few people have even heard of them) but among folks with ASD, the % is something like 4 or 5%. I'm not sure how accurate that is though...there's a lot of BS out there

the "vaccine injury" stories that the antivaxxer folks tend to tell sound a lot like the stories I read from people with children with mito particularly those mito disorders that affect the brain primarily. MNGIE does affect the brain, but the cognitive effects aren't as profound as many of the other mitochondrial disorders out there...for me the first symptoms were nausea, vomiting, unstable blood sugar (i'm type 1 diabetic so vomiging+ diabetes = not good), fatigue, weight loss. also causes nerve damage all over the body which in turn affects lots of other bodily systems. cognitive effects are more mild though. I have seizures and some processing issues.