|Posted on Tuesday, February 05, 2013 - 5:47 am: || |
http://sfari.org/news-and-opinion/news/2012/defects-in-carnitine-metabolism-may-underlie-autism This is the news I think we have been waiting for folks. This is what may make an autistic child a canary in the MSG coal mine. FEBRUARY 5, 2013 - Exciting finding so far, and a clue we may be understanding what is going on here with autism and why boys are more susceptible.
The latest gene deletion found in boys where two boys in the family have autism is a sex-linked mutation - the gene is found on the X chromosome - which means boys only get one copy of this. The gene is called TMLHE and helps make the enzyme to create carnitine from the amino acids methionine, and lysine in the liver. http://sfari.org/news-and-opinion/news/2012/defects-in-carnitine-metabolism-may-underlie-autism
Carnitine - think carnivore - or meat eater. That is where it gets its name. It was first isolated from meat.
The exciting and hopeful thing about this is that carnitine is easily obtained from the diet since these children have trouble making it on their own. It is found in RED MEAT. There are now preparations for large scale studies to look at boys with this gene deletion in families that are either vegetarian or families where the diet includes sources of carnitine. This gene deletion is 20 times more prevalent than the gene that causes PKU, the disease that makes it difficult for a child to metabolize phenylalanine. We are very excited because it was this very avenue of inquiry we were encouraging the NIH to pursue. We have always felt that the metabolism of the sulfur containing amino acids was a huge clue to this mystery of autism. This new connection to carnitine fits the puzzle.
Carnitine helps the body burn fat as a fuel in the mitochondria - which are the little power plants located in each cell. We suspect that since carnitine deficiency will create a fuel shortage - this may be why children with this deletion crave carbohydrates so noticeably. They cannot use long chain fatty acids for energy - they MUST use carbohydrate - or the easily digested short chain fatty acids found in coconut oil or butter. Unfortunately the very foods they crave - Carbohydrate foods are low in carnitine - which is found mainly in red meat like lamb or beef or bison.
How does glutamate fit into all this? Carnitine helps keep glutamate levels in the blood in check. In fact, it is being studied for preventing glutamate injury in stroke. http://stroke.ahajournals.org/content/37/2/524.full.pdf
Do vaccines ALSO play a role here? Well, babies are usually at risk for carnitine deficiency. http://www.newbornscreening.info/Parents/fattyaciddisorders/Carnitine.html Unfortunately, before they can even be tested for this, they are given MSG containing vaccines. We feel, like the NIH does, that the carnitine angle is EXTREMELY important for further study and that the day they are born, children should be tested for this gene deletion. But unlike the NIH, we think they should be prevented from getting MSG containing vaccines. This is ANOTHER reason they need to get MSG out of the vaccines. ASAP.
One more thought. What if the rise in autism is now more pronounced for the very simple reason that not only are their more sources of injury for a carnitine deficient child - more MSG in the diet - MSG in vaccines, but the very ill-advised red meat fear instilled in the American public by Ancel Keyes who was a sugar industry paid researcher who scared the public away from eating red meat since the 1950's? Just a thought. But that guy did a lot of damage to common sense and scientific inquiry.
The food industry and health policy makers need to do a LOT of soul searching over this and autism doctors need to apologize to a lot of parents out there who knew diet was key. They need to STOP coaxing kids in behavior classes with MSG laden junk food too. Like yesterday.
|Posted on Tuesday, February 05, 2013 - 6:56 pm: || |
Carnitine may also help with asthma.
|Posted on Thursday, February 07, 2013 - 4:35 pm: || |
Roy, you are the link KING! That again makes the MSG connection make sense too....
|Posted on Friday, February 08, 2013 - 12:14 am: || |
Another link regarding carnitine:
|Posted on Friday, February 08, 2013 - 12:28 am: || |
And another carnitine article:
|Posted on Saturday, February 09, 2013 - 7:29 am: || |
How interesting, another friend was just telling me about carnitine this week. It's come up in my research a few times, and has been on my list to investigate for a while. Has anyone tried supplementing?
|Posted on Saturday, February 09, 2013 - 8:27 am: || |
Going down a rat-hole...
Man I feel like I can almost understand this stuff, it's like trying to catch a rat by the tail but not quite being able to.
Here are some links a friend sent me this week...I haven't figured out if they were connected to the carnitine discussion or not.
From: SLC1A2 - Wikipedia, the free encyclopedia - <http://en.wikipedia.org/wiki/slc1a2>
SLC1A2 / EAAT2 is a member of a family of the solute carrier family of proteins. The membrane-bound protein is the principal transporter that clears the excitatory neurotransmitter glutamate from the extracellular space at synapses in the central nervous system. Glutamate clearance is necessary for proper synaptic activation and to prevent neuronal damage from excessive activation of glutamate receptors.
Role of excitatory amino acid transporter-2 (EAAT2) and glutamate in neurodegeneration: opportunities for developing novel therapeutics.
...Dysfunction of EAAT2 and accumulation of excessive extracellular glutamate has been implicated in the development of several neurodegenerative diseases including Alzheimer's disease, Huntington's disease, and amyotrophic lateral sclerosis.
From: Ceftriaxone - Wikipedia, the free encyclopedia - <http://en.wikipedia.org/wiki/ceftriaxone>
Ceftriaxone seems to increase EAAT2 pump expression and activity in the central nervous system and has therefore a potential to reduce glutamatergic toxicity.
|Posted on Monday, March 18, 2013 - 7:21 am: || |
Lisa, great links, I will look more into this too. Folks with errors of methylation have been checking into the MSG Truth facebook page lately...
|Posted on Tuesday, March 19, 2013 - 7:26 am: || |
Some of my friends and a family member have had genetic testing done lately, to see if they are missing a gene responsible for folic acid utilization. A local doctor has been doing research and this is a large part of his practice. The relative (through marriage) and most of his family just learned they cannot utilize it and that is why they have depression. They started taking a prescription for methyl folic acid and are doing so much better. Now if only it were that simple for the rest of us. Great info, Carol, Roy, and Lisa.
|Posted on Tuesday, March 19, 2013 - 7:29 am: || |
Is this the same carnitine that body builders use? I think I've seen it in health food stores...would taking that benefit us? Just thinking out loud.
|Posted on Tuesday, March 19, 2013 - 2:45 pm: || |
There are two forms of carnitine, which act very differently, and it seems that the Acetyl-Carnitine is the main one, but both have good effects. I just added them to my son's supplements, can't tell if they are helping yet.
Re: folic acid...I assume you are talking about MTHFR. Both my son and I have single copies but he has MTHFR A2198C and I have C677T. Mine prevents the conversion of folate to 5MTHF, which we supplement directly. (The prescription form I believe can be too strong for those of us with a slew of genetic issues. ) My son's, though, seems to be the really bad one because it wastes BH4 which causes a whole bunch of issues, esp. combined with the CBS double mutation that he has. (Here's a link: heartfixer.com/AMRI-Nutrigenomics.htm) Martin Pall's work (http://thetenthparadigm.org/index.html) does a really good job of explaining how a lot of this stuff relates to NMDA excitotoxicity and a downward spiral.
Note that those with methylation issues should stay away from supplements and food with regular folic acid. It actually gets in the way of using the 5MTHF.
|Posted on Tuesday, March 19, 2013 - 4:22 pm: || |
I have been very interested in the EAAT2 . . we are trying to get in to see someone at our Children's hospital, I actually had a real response from a clinician and researcher at the University Hospital that feels that my son's symptoms should be looked into either the metabolic clinic or immunology. His asthma is just not under control. Neuroimmunologymodality is another interesting specilty, I'm doing what I can to get GLu on the radar of MD's and hopefully find some detailed information/answers. This is my journey though, and I know others have tried as well.
|Posted on Thursday, March 21, 2013 - 5:19 am: || |
After reading that acetyl-L-carnitine was neuroprotective and could have great benefits, I was desperate to find help for my son's worsening depression this week (which I don't think is glutamate-mediated this time, but felt more like dopamine).
Despite knowing better, I added it too fast. I added L-carnitine one day and it didn't help so I added both it and ALCAR the next, and he had a great day but it became awful the next day, and yesterday was really scary--all of his glutamate-reaction-symptoms were through the roof, without any exposure to unknown foods. (Though he is not completely glutamate free; he usually does fine with a little malted barley flour here and there so some slips in).
I found indications on a group I'm on where a couple of moms have noted the same thing, that ALCAR can cause what at least looks like massive excitotoxicity. Ibuprofen blunted it noticeably, but not for long.
Guess I just wanted to post both a warning and a sob story. Luckily the usually-three-months-wait doctor fit us in so I'm heading there now.
|Posted on Thursday, March 21, 2013 - 5:25 pm: || |
LisaS, what is the follow up with the Dr?
|Posted on Friday, March 22, 2013 - 6:38 am: || |
Oh, where to start?
Yesterday my son was still reacting much worse than he ever does with glutamates. I do think there was some excitotoxicity caused by the ALCAR because the ibuprofen helped a bit. But the conclusion the doctor and I came to was that it was actually a serotonin reaction. He has had Very Bad Reactions to too much serotonin before and this was similar.
Most of the time at the doctor's (which I'm happy to chat about one the phone, right now fingers are sore from eating too much oxalate yesterday, but I felt sorry for myself, you know?), anyway, most of the time was spent on figuring out the anxiety and depression. We are trying PharmaGABA for any glutamate-related anxiety; apparently it's much more effective than straight GABA. It didn't do anything yesterday confirming my suspicion of serotonin overload (I also found evidence that ALCAR raises serotonin). For the depression, I told him I think it's low dopamine and he has a lot of respect for my so-called "gut feel" and looked at some markers and agreed. We are trying L-DOPA drops (they say homeopathic but I think they are labeled that way to get around restrictions as they are 30x?).
Yesterday afternoon about an hour after the L-dopa drops he was starting to feel better, but it could have been the ALCAR finally working itself out of his system.
I really hope today is better.
Oh, also he wants to test for Lyme and related infections, since he says we are doing everything right and when we still don't see results, that's a clue that something else is going on.
|Posted on Friday, March 22, 2013 - 8:49 pm: || |
I'm sorry. It's creatine that body builders use, not carnitine.
|Posted on Friday, March 22, 2013 - 8:52 pm: || |
Is methyl folic acid the same as other folic acid supplements? Saw it in a health food store and the label said it was more bio-available than regular folic acid supplements.
|Posted on Saturday, March 23, 2013 - 5:16 pm: || |
My understanding is that 5-MTHF is the most bioactive. Then folinic acid (calcium folate) and finally folic acid. Folic acid is the typical supplement - what is used in enriching foods - I am trying to avoid it right now.
Someone on a forum said 5-MTHF is the "meat" form - folinic acid the "veggie" form. I think that is probably right but don't take my word for it.
You might want to explore phoenixrising.me
|Posted on Wednesday, March 27, 2013 - 8:45 pm: || |