A new name for what we are treating: mitochondrial disease
Posted By Phyllis on September 29, 2009
The Journal of Child Neurology published an article a week ago linking autism to the combination of mitochondrial disease and fever. Among other things, the abstract says, “Autistic spectrum disorders encompass … many genetic causes. A subgroup of these individuals has mitochondrial disease.”
I am interested to find the words “mitochondrial disease.” I am understanding that this is exactly what I have been treating my son Mike for–enzyme deficiencies and so on that are simply genetic, and can be remedied at least somewhat using food and vitamin supplements. Interesting to have a name for it now! As I have supposed, not all people with autism suffer from this.
In the study, 28 patients were identified who were both autistic and suffered from mitochondrial disease. Seventeen of these had suffered an autistic regression (where a once healthy and happy child becomes autistic, often at the age of 2 or 3). Of those 17, 70 percent regressed in the presence of fever, often from vaccination. The other 30 percent regressed “without identifiable linkage to fever or vaccinations.” The authors conclude that individuals with mitochondrial disease “may be at risk of autistic regression with fever.” It recommended fever management in these cases, but not avoiding vaccines. Strange conclusion if you ask me.
I looked up “mitochondrial disease” and found a Web site with plenty of information. The treatment listed is just what we have been doing. However, the authors have not made a link between mitochondrial disease and autism yet. They are thinking that mitochondrial disease is rare: “About one in 4,000 children in the United States will develop mitochondrial disease by the age of 10 years.” I expect it’s plenty higher than that.
I’ve heard a little about mitochondrial disease. I read that some children that received immunizations and regressed immediately afterwards were later diagnosed with it.
Mitochondrial disease is a funny sort of thing. I know you were talking about “Mike” having several Autism specific mutations when you had his DNA tested. That’s a bit inconsistent with a mitochondrial disease…because as I understand it, mitochondria are mostly independent of your own genetic code. All the mitochondria we have come entirely from our mother’s egg cell, as sperm cells extrude all there mitochondria as part of their development. Mitochondria actually have their own genetic code, which is why some people theorize that they were originally an intracellular organism that infected a host cell, and then became useful to life processes. There’s an expert in mitochondrial disease at SLU…he’s a pediatric surgeon (Dr. Anders maybe?). He knows so much about it because most of his kids have it to some degree. I believe he said that they found they could treat it with a ketotic diet (no carbs, lots of fats). He talked about how the son who had it worst would have to eat mostly just butter to control his symptoms.
My only other thought is that if “mike” really had a mitochondrial disease, then all your children should have it, though to greater or lesser extent. They all got all they’re mitochondria from you. Still, specific diet may work to treat it. I’d be cautious about mitochondrial testing though…it’s extremely expensive, and probably won’t lead to much therapeutic benefit. You probably just need to try and see what sort of diet works best for Mike.
For readers, I wanted to tell you Tim is finishing medical school and knows a lot more than most of us about these things.
Tim, this is very interesting to me, that you say the mitochondria are controlled by genetics only from the mother’s side. The diagrams I have seen from Amy Yasko show mitochondrial processes and the enzymes needed for various reactions, plus inputs and outputs. These diagrams identify places where that system breaks down because of genetic mutations that affect the enzymes. Mike had his blood tested for some of these mutations that apparently coincide with autism. These mutations can come from one parent, in which case they are denoted “+”, or from both, in which case they are denoted “++”. “Mike” has plenty of both.
So I am confused. I suppose I should ask Amy Yasko to explain.
Hi, we are a mito family.
Mito can be caused by nuclear dna mutations or mtdna mutations. Therefore the cause can be maternal, recessive or dominant. Certainly not just maternal as stated previously. For further details please visit the umdf website or indeed our website. Good luck. xxx
Here’s the page on the Mitochondrial Disease Foundation Web site that Annette was referring to:
http://www.umdf.org/site/c.dnJEKLNqFoG/b.3042179/k.5799/Inheritance__Genetics.htm
I wanted to let you know of another great mitochondrial disease resource and information site. There is a forum, a clinician’s guide to the disease, education related resources, and a really good FAQ section to answer common questions about the disease. There are so many useful resources from this site, I couldn’t possibly list all of them. Here is a link to the site’s Top Ten Resources:
http://www.mitoaction.org/topten
Hope you find this helpful.