Guest guest Posted December 23, 2011 Report Share Posted December 23, 2011 Seizures According to the National Institute of Neurological Disorders and Stroke, many people with autism also suffer from epileptic seizures. This may be due to the toxicity of ammonia, which is elevated in people with a secondary carnitine deficiency. In a study published in the journal " Biochemical Pharmacology, " researchers found that L-carnitine has a protective effect against ammonia toxicity and can reduce the risk of having a seizure. Read more: http://www.livestrong.com/article/511380-acetyl-l-carnitine-autism/#ixzz1hPMZEMB\ d Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 23, 2011 Report Share Posted December 23, 2011 Alpha-ketoglutarate's also known to effectively lower ammonia, too. We're waiting for our order to come in right now (Maia has shown high ammonia on her amino profile). We've been seeing a lot of good things with carnitine these days -- especially for my son. I've been foaming at the mouth about carnitine for a while on here and other groups. I LOVE carnitine for Ethan. I just found out lately that carnitine also modulates the melatonin regulation functions of the pineal gland. For a long time, my son had massive sleep issues until we started using carnitine. Source: http://www.ncbi.nlm.nih.gov/pubmed/1805293 Male Sprague-Dawley rats injected (i.p.) at 1500h with L-acetyl-carnitine in doses of 10, 30 or 90 mg/kg exhibited a notable increase in their pineal and serum melatonin content 1 hr later. Likewise, L-acetyl-carnitine administered in the same dose range induced a significant increase of pineal and serum melatonin content in rats treated at 0100h, following exposure of 30 min to bright white light to suppress endogenous melatonin. Under in vitro experimental conditions, however, 60 min of coincubation of isolated rat pineal glands with L-acetyl-carnitine (10(-5) M) did not result in an elevation in melatonin accumulated in the incubation medium. These results demonstrate that, in vivo, L-acetyl-carnitine can exert a modulatory action on synthesis and release of melatonin, possibly by modifying noradrenergic transmission and signal transduction in the pineal gland. After we started my son on carnitine, he was able to sleep better, able to gain weight and we've seen some nice gains in language and motor skills. Carnitine ROCKS! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 23, 2011 Report Share Posted December 23, 2011 Can someone please explain why my son does not tolerate L-carnitine. I had tried a pinch of l-carnitine twice. Both the times he looked lost, more impulsiveness and frequent dumping of stools which eventually ended as loose stools.. Please advice.. Subject: Re: carmitine and siezuresTo: mb12valtrex Date: Saturday, December 24, 2011, 10:32 AM Alpha-ketoglutarate's also known to effectively lower ammonia, too.We're waiting for our order to come in right now (Maia has shown highammonia on her amino profile).We've been seeing a lot of good things with carnitine these days --especially for my son. I've been foaming at the mouth about carnitinefor a while on here and other groups. I LOVE carnitine for Ethan.I just found out lately that carnitine also modulates the melatoninregulation functions of the pineal gland. For a long time, my son hadmassive sleep issues until we started using carnitine.Source: http://www.ncbi.nlm.nih.gov/pubmed/1805293Male Sprague-Dawley rats injected (i.p.) at 1500h withL-acetyl-carnitine in doses of 10, 30 or 90 mg/kg exhibited a notableincrease in their pineal and serum melatonin content 1 hr later.Likewise, L-acetyl-carnitine administered in the same dose rangeinduced a significant increase of pineal and serum melatonin contentin rats treated at 0100h, following exposure of 30 min to bright whitelight to suppress endogenous melatonin. Under in vitro experimentalconditions, however, 60 min of coincubation of isolated rat pinealglands with L-acetyl-carnitine (10(-5) M) did not result in anelevation in melatonin accumulated in the incubation medium. Theseresults demonstrate that, in vivo, L-acetyl-carnitine can exert amodulatory action on synthesis and release of melatonin, possibly bymodifying noradrenergic transmission and signal transduction in thepineal gland.After we started my son on carnitine, he was able to sleep better,able to gain weight and we've seen some nice gains in language andmotor skills.Carnitine ROCKS! Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 25, 2011 Report Share Posted December 25, 2011 Good morning, Alberta, Great to hear of your success!!! What brand of Carnitine do you purchase? Thank you, Jerry > > Alpha-ketoglutarate's also known to effectively lower ammonia, too. > We're waiting for our order to come in right now (Maia has shown high > ammonia on her amino profile). > > We've been seeing a lot of good things with carnitine these days -- > especially for my son. I've been foaming at the mouth about carnitine > for a while on here and other groups. I LOVE carnitine for Ethan. > > I just found out lately that carnitine also modulates the melatonin > regulation functions of the pineal gland. For a long time, my son had > massive sleep issues until we started using carnitine. > > Source: http://www.ncbi.nlm.nih.gov/pubmed/1805293 > > Male Sprague-Dawley rats injected (i.p.) at 1500h with > L-acetyl-carnitine in doses of 10, 30 or 90 mg/kg exhibited a notable > increase in their pineal and serum melatonin content 1 hr later. > Likewise, L-acetyl-carnitine administered in the same dose range > induced a significant increase of pineal and serum melatonin content > in rats treated at 0100h, following exposure of 30 min to bright white > light to suppress endogenous melatonin. Under in vitro experimental > conditions, however, 60 min of coincubation of isolated rat pineal > glands with L-acetyl-carnitine (10(-5) M) did not result in an > elevation in melatonin accumulated in the incubation medium. These > results demonstrate that, in vivo, L-acetyl-carnitine can exert a > modulatory action on synthesis and release of melatonin, possibly by > modifying noradrenergic transmission and signal transduction in the > pineal gland. > > After we started my son on carnitine, he was able to sleep better, > able to gain weight and we've seen some nice gains in language and > motor skills. > > Carnitine ROCKS! > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 25, 2011 Report Share Posted December 25, 2011 We use the NOW Foods brand for both. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 27, 2011 Report Share Posted December 27, 2011 The best carnitine for kids with autism is prescription Carnitor. The generic rx is called levo-carnitine. This is the best form. Liquid NOT tablets. And over the counter is not an equivalent product. Carnitine is helping countless kids with autism. Many kids have low carntine levls if labs are done prior to starting the medication. My two moys have been on it for YEARS now and both are developmentally caught up. Alyssawww.mitoaction.org/autismA prospective double-blind, randomized clinical trial of levocarnitine to treat autism spectrum disorders. Geier DA, Kern JK, G, King PG, JB, Young JL, Geier MR. (2011) A Prospective double-blind, randomized clinical tiral of levocarnitine to treat autism spectrum disorders. Med Sci Monit Jun;17(6):PI15-23. Abstract BACKGROUND: L-carnitine was proposed as a potential treatment for patients diagnosed with an autism spectrum disorder to improve mitochondrial dysfunction, but no prior randomized controlled trials have been conducted. MATERIAL / METHODS: Thirty subjects diagnosed with an ASD were randomly assigned to receive a standardized regimen (50 mg L-carnitine/kg bodyweight/day) of liquid L-carnitine (n=19) or placebo (n=11) for 3-months. Measures included changes in professionally completed Childhood Autism Rating Scale (CARS), hand muscle testing, and modified clinical global impression (CGI) forms; parent completed Autism Treatment Evaluation Checklist (ATEC), treatment adherence measurement (TAM), frequency and intensity of side effect rating (FISER)/global rating of side effect burden (GRSEB)/patient report of incidence of side effects (PRISE) forms; and lab testing. RESULTS: Significant improvements were observed in CARS (-2.03, 95% CI=-3.7 to -0.31), CGI (-0.69, 95% CI=-1.1 to -0.06), and ATEC scores. Significant correlations between changes in serum free-carnitine levels and positive clinical changes were observed for hand muscle strength (R2=0.23, P=0.046), cognitive scores (R2=0.27, P=0.019), and CARS scores (R2=0.20, P=0.047). Study subjects were protocol-compliant (average adherence was >85%) and generally well-tolerated the L-carnitine therapy given. CONCLUSIONS: L-carnitine therapy (50 mg/kilogram-bodyweight/day) administered for 3-months significantly improved several clinical measurements of ASD severity, but subsequent studies are recommended. http://www.ncbi.nlm.nih.gov/pubmed?term=PMID%3A%2021629200 Alyssawww.mitoaction.org/autism To: mb12valtrex Sent: Sunday, December 25, 2011 1:38 PM Subject: Re: carmitine and siezures Good morning, Alberta, Great to hear of your success!!! What brand of Carnitine do you purchase? Thank you, Jerry > > Alpha-ketoglutarate's also known to effectively lower ammonia, too. > We're waiting for our order to come in right now (Maia has shown high > ammonia on her amino profile). > > We've been seeing a lot of good things with carnitine these days -- > especially for my son. I've been foaming at the mouth about carnitine > for a while on here and other groups. I LOVE carnitine for Ethan. > > I just found out lately that carnitine also modulates the melatonin > regulation functions of the pineal gland. For a long time, my son had > massive sleep issues until we started using carnitine. > > Source: http://www.ncbi.nlm.nih.gov/pubmed/1805293 > > Male Sprague-Dawley rats injected (i.p.) at 1500h with > L-acetyl-carnitine in doses of 10, 30 or 90 mg/kg exhibited a notable > increase in their pineal and serum melatonin content 1 hr later. > Likewise, L-acetyl-carnitine administered in the same dose range > induced a significant increase of pineal and serum melatonin content > in rats treated at 0100h, following exposure of 30 min to bright white > light to suppress endogenous melatonin. Under in vitro experimental > conditions, however, 60 min of coincubation of isolated rat pineal > glands with L-acetyl-carnitine (10(-5) M) did not result in an > elevation in melatonin accumulated in the incubation medium. These > results demonstrate that, in vivo, L-acetyl-carnitine can exert a > modulatory action on synthesis and release of melatonin, possibly by > modifying noradrenergic transmission and signal transduction in the > pineal gland. > > After we started my son on carnitine, he was able to sleep better, > able to gain weight and we've seen some nice gains in language and > motor skills. > > Carnitine ROCKS! > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 27, 2011 Report Share Posted December 27, 2011 Good point, Alyssa. I think I might try Carnitor for my daughter. Both of my kids are huge responders to even the OTC carnitine -- makes me wonder if we might see more with my daughter on Carnitor. The OTC stuff's working but it's not as fast acting with her as it is with my son and she's got the leucine issue that I'm still seeing crop up with higher leucine consumption from food sources, and I'm thinking that's still to do with carnitine. > The best carnitine for kids with autism is prescription Carnitor. The > generic rx is called levo-carnitine. This is the best form. Liquid NOT > tablets. And over the counter is not an equivalent product. Carnitine is > helping countless kids with autism. Many kids have low carntine levls if > labs are done prior to starting the medication. My two moys have been on it > for YEARS now and both are developmentally caught up. > Alyssa > www.mitoaction.org/autism > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 27, 2011 Report Share Posted December 27, 2011 My son reacted to the liquid due to artificial flavoring, wonder why you think liquid is better than tablet? I took him off the tablet recently due to diarrhea, saw no difference. Beth Sent from my iPad Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2011 Report Share Posted December 28, 2011 when u say responders and working what exactly does that me.. I want to know how to determines ots effectiveness for my daughter. Re: Re: carmitine and siezures Good point, Alyssa. I think I might try Carnitor for my daughter. Both of my kids are huge responders to even the OTC carnitine -- makes me wonder if we might see more with my daughter on Carnitor. The OTC stuff's working but it's not as fast acting with her as it is with my son and she's got the leucine issue that I'm still seeing crop up with higher leucine consumption from food sources, and I'm thinking that's still to do with carnitine. > The best carnitine for kids with autism is prescription Carnitor. The > generic rx is called levo-carnitine. This is the best form. Liquid NOT > tablets. And over the counter is not an equivalent product. Carnitine is > helping countless kids with autism. Many kids have low carntine levls if > labs are done prior to starting the medication. My two moys have been on it > for YEARS now and both are developmentally caught up. > Alyssa > www.mitoaction.org/autism > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2011 Report Share Posted December 28, 2011 What " response " looks like for my kids is that I see improvement. When I get the dosages right, (I got it right for my son on the first try but it took a little more adjusting to get it right for my daughter b/c the dosages were too low so I saw nothing at first), it is very striking. There is an increase in the ability to speak (for us, our biggest challenge was speech and language), the increased ability to make accurate sounds and the kids are both more " there " , better able to solve everyday problems. For my son, I think it actually modulated his pineal gland, where melatonin was made. He had severe sleep disruptions and the nights were brutal. When carnitine started working on him, he became able to sleep. I think it helped the gland (or something else?) use melatonin. Prior to that, he would have trouble falling asleep and staying asleep. He would wake up every 2-3 hours and be up for at least an hour. It wasn't that he didn't need sleep. When I started L-carnitine on him, he started calming down and being able to pay attention. I know, carnitine's supposed to give energy but it actually calmed him a bit and he became capable of joint attention. When I re-introduced ALCAR, his motor planning improved noticeably within a week. He had some motor planning issues, which I think are now fully resolved with ALCAR. He's able to hold a crayon and draw, able to climb any of the play structures at the playground (before, he didn't know what to do with anything and would be running around aimlessly). I also introduced taurine when I re-introduced the ALCAR because he did have some hyperactivity reaction to it when I first introduced it six months before. I had pulled him off ALCAR initially because it made him overhyper and it didn't appear to do what it was supposed to do. I kept him on L-carnitine for six months and then I got inspired by another mom and I re-introduced ALCAR, but made sure to give taurine with it every time. I'm decreasing his dosage now to about 50 mg of each (ALCAR and L-carnitine). He was on 250 mg of each. He did have a little nausea after a while and I just read two nights ago that this can mean too much carnitine and things might be jumpstarting and he's beginning to make his own carnitine so he might not need as much supplementation anymore. I've since started him on a small amount of a b-complex so it might be that the precursors are there for him to start making his own carnitine now. > when u say responders and working what exactly does that me.. I want to know > how to determines ots effectiveness for my daughter. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2011 Report Share Posted December 28, 2011 Oh, and I forgot to note one more huge thing too that we see with carnitine. Both the kids are actually physically growing. There was a time when both my kids had stopped growing completely and my son looked so scary thin. That was a really scary time. And my son had very excessive drooling. Carnitine supplementation stopped that completely. > What " response " looks like for my kids is that I see improvement. > When I get the dosages right, (I got it right for my son on the first > try but it took a little more adjusting to get it right for my > daughter b/c the dosages were too low so I saw nothing at first), it > is very striking. There is an increase in the ability to speak (for > us, our biggest challenge was speech and language), the increased > ability to make accurate sounds and the kids are both more " there " , > better able to solve everyday problems. For my son, I think it > actually modulated his pineal gland, where melatonin was made. He had > severe sleep disruptions and the nights were brutal. When carnitine > started working on him, he became able to sleep. I think it helped > the gland (or something else?) use melatonin. Prior to that, he would > have trouble falling asleep and staying asleep. He would wake up > every 2-3 hours and be up for at least an hour. It wasn't that he > didn't need sleep. > > When I started L-carnitine on him, he started calming down and being > able to pay attention. I know, carnitine's supposed to give energy > but it actually calmed him a bit and he became capable of joint > attention. When I re-introduced ALCAR, his motor planning improved > noticeably within a week. He had some motor planning issues, which I > think are now fully resolved with ALCAR. He's able to hold a crayon > and draw, able to climb any of the play structures at the playground > (before, he didn't know what to do with anything and would be running > around aimlessly). > > I also introduced taurine when I re-introduced the ALCAR because he > did have some hyperactivity reaction to it when I first introduced it > six months before. I had pulled him off ALCAR initially because it > made him overhyper and it didn't appear to do what it was supposed to > do. I kept him on L-carnitine for six months and then I got inspired > by another mom and I re-introduced ALCAR, but made sure to give > taurine with it every time. > > I'm decreasing his dosage now to about 50 mg of each (ALCAR and > L-carnitine). He was on 250 mg of each. He did have a little nausea > after a while and I just read two nights ago that this can mean too > much carnitine and things might be jumpstarting and he's beginning to > make his own carnitine so he might not need as much supplementation > anymore. I've since started him on a small amount of a b-complex so > it might be that the precursors are there for him to start making his > own carnitine now. > > >> when u say responders and working what exactly does that me.. I want to >> know >> how to determines ots effectiveness for my daughter. > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2011 Report Share Posted December 28, 2011 The theory is that liquid is better absorbed, and potentially better metabolized, in kids with GI dysfunction/malabsorption issues. I know that Lee Silsby's in Ohio is compounding a clean (sugar and dye free) liquid carnitine version for some biomed MD's. You could check with them, if you want to try a different version. In the mitochondrial and organic acidemia community, diarrhea is sometimes reported as an adverse side effect to prescription levo-carnitine. I have heard from some that rx Carnitor (not the generic, levo-carnitine) causes less diarrhea, in some. Also if carnitine doses are too high, then it can cause diarrhea. Carnitine doses are typically split 50% in the am and 50% in the pm.... one large daily dose could create diarrhea. My two sons are on liquid levo-carnitine: 36 + pounds- 7 ml daily, 3.5 in am and 3.5 in pm 46 + pounds- 10 ml daily, 5ml in am and 5 ml in pm It is my opinion, and I am just a mom, not an MD, that any child who has a sharp developmental response from carnitine should pursue testing for mitochondrial dysfunction. In some cases, these kids have further gains from adding the additional supplement components of the "mito cocktail". http://www.mitoaction.org/autism/march-2011-teleconference http://www.mitoaction.org/category/autism-categories/related-research I believe there is a synergist developmental response, to the full cocktail, in some children. And in some kids, I think the full positive effects of carnitine can take months, even years, to be fully realized. Personally, I think rx carnitine should be tried "long term"... 6 -12 months in kids who show no overt adverse effects... before you decide if it's helpful or not. In some, it's slow steady small gains, over time. Some ASD children are severely deficient in carnitine. Benefits you might observe with rx carnitine, based on what some parents have reported are: increased energy increased muscle strength improved motor skills healthy weight gain (in low weight, FTT kids) better/increased food consumption better social connectness improved immune response, fewer illnesses and faster recovery more avaliable for therapies, improved cognition- more energy, more avaliable for learning Hope this is helpful, Alyssa To: "mb12valtrex " <mb12valtrex > Sent: Wednesday, December 28, 2011 1:26 AMSubject: Re: carmitine and siezures My son reacted to the liquid due to artificial flavoring, wonder why you think liquid is better than tablet? I took him off the tablet recently due to diarrhea, saw no difference.BethSent from my iPad Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2011 Report Share Posted December 28, 2011 Alyssa, what would be the first steps I would take to have my children tested for mito dysfunction. What kinds of tests should I be looking to run? I was checking out the mitoaction site in your sig but nothing was showing up in my browser on the pages about testing. > The theory is that liquid is better absorbed, and potentially better > metabolized, in kids with GI dysfunction/malabsorption issues. > > I know that Lee Silsby's in Ohio is compounding a clean (sugar and dye free) > liquid carnitine version for some biomed MD's. You could check with them, > if you want to try a different version. > > In the mitochondrial and organic acidemia community, diarrhea is sometimes > reported as an adverse side effect to prescription levo-carnitine. I have > heard from some that rx Carnitor (not the generic, levo-carnitine) causes > less diarrhea, in some. Also if carnitine doses are too high, then it can > cause diarrhea. > > Carnitine doses are typically split 50% in the am and 50% in the pm.... one > large daily dose could create diarrhea. > > My two sons are on liquid levo-carnitine: > > 36 + pounds- 7 ml daily, 3.5 in am and 3.5 in pm > 46 + pounds- 10 ml daily, 5ml in am and 5 ml in pm > > It is my opinion, and I am just a mom, not an MD, that any child who has a > sharp developmental response from carnitine should pursue testing for > mitochondrial dysfunction. In some cases, these kids have further gains > from adding the additional supplement components of the " mito cocktail " . > > http://www.mitoaction.org/autism/march-2011-teleconference > > http://www.mitoaction.org/category/autism-categories/related-research > > I believe there is a synergist developmental response, to the full cocktail, > in some children. And in some kids, I think the full positive effects of > carnitine can take months, even years, to be fully realized. Personally, I > think rx carnitine should be tried " long term " ... 6 -12 months in kids who > show no overt adverse effects... before you decide if it's helpful or not. > In some, it's slow steady small gains, over time. > > Some ASD children are severely deficient in carnitine. > > Benefits you might observe with rx carnitine, based on what some parents > have reported are: > > increased energy > increased muscle strength > improved motor skills > healthy weight gain (in low weight, FTT kids) > better/increased food consumption > better social connectness > improved immune response, fewer illnesses and faster recovery > more avaliable for therapies, improved cognition- more energy, more > avaliable for learning > > Hope this is helpful, > Alyssa > > > To: " mb12valtrex " <mb12valtrex > > Sent: Wednesday, December 28, 2011 1:26 AM > Subject: Re: carmitine and siezures > > > > My son reacted to the liquid due to artificial flavoring, wonder why you > think liquid is better than tablet? I took him off the tablet recently due > to diarrhea, saw no difference. > > Beth > > Sent from my iPad > Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2011 Report Share Posted December 28, 2011 This article was published in Autism File magazine last summer. It's a good overview. http://www.mitoaction.org/files/Autism-OXPHOS_1.pdf And this is a link with information about testing: http://www.mitoaction.org/autism/february-2011-teleconference Dr. Fran Kendall, in Atlanta, is a geneticist who has an earnest interest in evaluating kids with autism and suspected mito. You can do a "second opinion consult" with her, via phone, if you have a local MD who can sign for testing. Some parents have been able to get their local pediatrician to sign for the basic metabolic screening labs (listed in these links), which I think is the best starting point. And then a consultation for interpretaion of the testing results (with a mito MD/specialist) is recommended. http://www.mitoaction.org/files/MitoAutism3panel2011.pdf But keep in mind, if you have started carnitine before free and total carnitine values were drawn... you have LOST your child's baseline carnitine lab. Supplementing may (will generally) mask any deficiency that was initially present. We have been working with Dr. O'Hara in CT for many years now. Through my boys, she has become knowledgeable about mito. If you wanted to consult with a biomed MD who knows about mito, I'd recommend her. I know she's using the mito cocktail in ASD kids. The only con is her retainer, she is very $$$. http://ihealthnow.org/aboutus/index.html Here's a link to the main autism website at MitoAction. http://www.mitoaction.org/about-autism-and-mito There is a lot of information there to read. Let me know if you have other questions, happy to help, if I can. ;0) Alyssa To: mb12valtrex Sent: Wednesday, December 28, 2011 7:29 PMSubject: Re: Re: carmitine and siezures Alyssa, what would be the first steps I would take to have my childrentested for mito dysfunction. What kinds of tests should I be lookingto run? I was checking out the mitoaction site in your sig butnothing was showing up in my browser on the pages about testing.> The theory is that liquid is better absorbed, and potentially better> metabolized, in kids with GI dysfunction/malabsorption issues.>> I know that Lee Silsby's in Ohio is compounding a clean (sugar and dye free)> liquid carnitine version for some biomed MD's. You could check with them,> if you want to try a different version.>> In the mitochondrial and organic acidemia community, diarrhea is sometimes> reported as an adverse side effect to prescription levo-carnitine. I have> heard from some that rx Carnitor (not the generic, levo-carnitine) causes> less diarrhea, in some. Also if carnitine doses are too high, then it can> cause diarrhea.>> Carnitine doses are typically split 50% in the am and 50% in the pm.... one> large daily dose could create diarrhea.>> My two sons are on liquid levo-carnitine:>> 36 + pounds- 7 ml daily, 3.5 in am and 3.5 in pm> 46 + pounds- 10 ml daily, 5ml in am and 5 ml in pm>> It is my opinion, and I am just a mom, not an MD, that any child who has a> sharp developmental response from carnitine should pursue testing for> mitochondrial dysfunction. In some cases, these kids have further gains> from adding the additional supplement components of the "mito cocktail".>> http://www.mitoaction.org/autism/march-2011-teleconference>> http://www.mitoaction.org/category/autism-categories/related-research>> I believe there is a synergist developmental response, to the full cocktail,> in some children. And in some kids, I think the full positive effects of> carnitine can take months, even years, to be fully realized. Personally, I> think rx carnitine should be tried "long term"... 6 -12 months in kids who> show no overt adverse effects... before you decide if it's helpful or not.> In some, it's slow steady small gains, over time.>> Some ASD children are severely deficient in carnitine.>> Benefits you might observe with rx carnitine, based on what some parents> have reported are:>> increased energy> increased muscle strength> improved motor skills> healthy weight gain (in low weight, FTT kids)> better/increased food consumption> better social connectness> improved immune response, fewer illnesses and faster recovery> more avaliable for therapies, improved cognition- more energy, more> avaliable for learning>> Hope this is helpful,> Alyssa>> > To: "mb12valtrex " <mb12valtrex >> Sent: Wednesday, December 28, 2011 1:26 AM> Subject: Re: carmitine and siezures>>>> My son reacted to the liquid due to artificial flavoring, wonder why you> think liquid is better than tablet? I took him off the tablet recently due> to diarrhea, saw no difference.>> Beth>> Sent from my iPad> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2011 Report Share Posted December 28, 2011 Thank alyssa, very helpful! All this carnitine talk has me thinking we need to retry it again. Do you know if the liquid version is easier on the tummy or if there is a way to have it compounded as a transdermal? Both of my kids didn't tolerate well the pure encapsulations version (tried it twice) so we stopped this summer....Many thanks,-- Sent from my Palm Pre This article was published in Autism File magazine last summer. It's a good overview. http://www.mitoaction.org/files/Autism-OXPHOS_1.pdf And this is a link with information about testing: http://www.mitoaction.org/autism/february-2011-teleconference Dr. Fran Kendall, in Atlanta, is a geneticist who has an earnest interest in evaluating kids with autism and suspected mito. You can do a "second opinion consult" with her, via phone, if you have a local MD who can sign for testing. Some parents have been able to get their local pediatrician to sign for the basic metabolic screening labs (listed in these links), which I think is the best starting point. And then a consultation for interpretaion of the testing results (with a mito MD/specialist) is recommended. http://www.mitoaction.org/files/MitoAutism3panel2011.pdf But keep in mind, if you have started carnitine before free and total carnitine values were drawn... you have LOST your child's baseline carnitine lab. Supplementing may (will generally) mask any deficiency that was initially present. We have been working with Dr. O'Hara in CT for many years now. Through my boys, she has become knowledgeable about mito. If you wanted to consult with a biomed MD who knows about mito, I'd recommend her. I know she's using the mito cocktail in ASD kids. The only con is her retainer, she is very $$$. http://ihealthnow.org/aboutus/index.html Here's a link to the main autism website at MitoAction. http://www.mitoaction.org/about-autism-and-mito There is a lot of information there to read. Let me know if you have other questions, happy to help, if I can. ;0) Alyssa To: mb12valtrex Sent: Wednesday, December 28, 2011 7:29 PMSubject: Re: Re: carmitine and siezures Alyssa, what would be the first steps I would take to have my childrentested for mito dysfunction. What kinds of tests should I be lookingto run? I was checking out the mitoaction site in your sig butnothing was showing up in my browser on the pages about testing.> The theory is that liquid is better absorbed, and potentially better> metabolized, in kids with GI dysfunction/malabsorption issues.>> I know that Lee Silsby's in Ohio is compounding a clean (sugar and dye free)> liquid carnitine version for some biomed MD's. You could check with them,> if you want to try a different version.>> In the mitochondrial and organic acidemia community, diarrhea is sometimes> reported as an adverse side effect to prescription levo-carnitine. I have> heard from some that rx Carnitor (not the generic, levo-carnitine) causes> less diarrhea, in some. Also if carnitine doses are too high, then it can> cause diarrhea.>> Carnitine doses are typically split 50% in the am and 50% in the pm.... one> large daily dose could create diarrhea.>> My two sons are on liquid levo-carnitine:>> 36 + pounds- 7 ml daily, 3.5 in am and 3.5 in pm> 46 + pounds- 10 ml daily, 5ml in am and 5 ml in pm>> It is my opinion, and I am just a mom, not an MD, that any child who has a> sharp developmental response from carnitine should pursue testing for> mitochondrial dysfunction. In some cases, these kids have further gains> from adding the additional supplement components of the "mito cocktail".>> http://www.mitoaction.org/autism/march-2011-teleconference>> http://www.mitoaction.org/category/autism-categories/related-research>> I believe there is a synergist developmental response, to the full cocktail,> in some children. And in some kids, I think the full positive effects of> carnitine can take months, even years, to be fully realized. Personally, I> think rx carnitine should be tried "long term"... 6 -12 months in kids who> show no overt adverse effects... before you decide if it's helpful or not.> In some, it's slow steady small gains, over time.>> Some ASD children are severely deficient in carnitine.>> Benefits you might observe with rx carnitine, based on what some parents> have reported are:>> increased energy> increased muscle strength> improved motor skills> healthy weight gain (in low weight, FTT kids)> better/increased food consumption> better social connectness> improved immune response, fewer illnesses and faster recovery> more avaliable for therapies, improved cognition- more energy, more> avaliable for learning>> Hope this is helpful,> Alyssa>> > To: "mb12valtrex " <mb12valtrex >> Sent: Wednesday, December 28, 2011 1:26 AM> Subject: Re: carmitine and siezures>>>> My son reacted to the liquid due to artificial flavoring, wonder why you> think liquid is better than tablet? I took him off the tablet recently due> to diarrhea, saw no difference.>> Beth>> Sent from my iPad> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2011 Report Share Posted December 28, 2011 My son tolerated carnitine very well at first, but after a few months began complaining of tummy aches which subsided as soon as I stopped giving it to him. -Tammy To: "mb12valtrex " <mb12valtrex > Sent: Wednesday, December 28, 2011 10:33 PM Subject: Re: Re: carmitine and siezures Thank alyssa, very helpful! All this carnitine talk has me thinking we need to retry it again. Do you know if the liquid version is easier on the tummy or if there is a way to have it compounded as a transdermal? Both of my kids didn't tolerate well the pure encapsulations version (tried it twice) so we stopped this summer....Many thanks,-- Sent from my Palm Pre This article was published in Autism File magazine last summer. It's a good overview. http://www.mitoaction.org/files/Autism-OXPHOS_1.pdf And this is a link with information about testing: http://www.mitoaction.org/autism/february-2011-teleconference Dr. Fran Kendall, in Atlanta, is a geneticist who has an earnest interest in evaluating kids with autism and suspected mito. You can do a "second opinion consult" with her, via phone, if you have a local MD who can sign for testing. Some parents have been able to get their local pediatrician to sign for the basic metabolic screening labs (listed in these links), which I think is the best starting point. And then a consultation for interpretaion of the testing results (with a mito MD/specialist) is recommended. http://www.mitoaction.org/files/MitoAutism3panel2011.pdf But keep in mind, if you have started carnitine before free and total carnitine values were drawn... you have LOST your child's baseline carnitine lab. Supplementing may (will generally) mask any deficiency that was initially present. We have been working with Dr. O'Hara in CT for many years now. Through my boys, she has become knowledgeable about mito. If you wanted to consult with a biomed MD who knows about mito, I'd recommend her. I know she's using the mito cocktail in ASD kids. The only con is her retainer, she is very $$$. http://ihealthnow.org/aboutus/index.html Here's a link to the main autism website at MitoAction. http://www.mitoaction.org/about-autism-and-mito There is a lot of information there to read. Let me know if you have other questions, happy to help, if I can. ;0) Alyssa To: mb12valtrex Sent: Wednesday, December 28, 2011 7:29 PMSubject: Re: Re: carmitine and siezures Alyssa, what would be the first steps I would take to have my childrentested for mito dysfunction. What kinds of tests should I be lookingto run? I was checking out the mitoaction site in your sig butnothing was showing up in my browser on the pages about testing.> The theory is that liquid is better absorbed, and potentially better> metabolized, in kids with GI dysfunction/malabsorption issues.>> I know that Lee Silsby's in Ohio is compounding a clean (sugar and dye free)> liquid carnitine version for some biomed MD's. You could check with them,> if you want to try a different version.>> In the mitochondrial and organic acidemia community, diarrhea is sometimes> reported as an adverse side effect to prescription levo-carnitine. I have> heard from some that rx Carnitor (not the generic, levo-carnitine) causes> less diarrhea, in some. Also if carnitine doses are too high, then it can> cause diarrhea.>> Carnitine doses are typically split 50% in the am and 50% in the pm.... one> large daily dose could create diarrhea.>> My two sons are on liquid levo-carnitine:>> 36 + pounds- 7 ml daily, 3.5 in am and 3.5 in pm> 46 + pounds- 10 ml daily, 5ml in am and 5 ml in pm>> It is my opinion, and I am just a mom, not an MD, that any child who has a> sharp developmental response from carnitine should pursue testing for> mitochondrial dysfunction. In some cases, these kids have further gains> from adding the additional supplement components of the "mito cocktail".>> http://www.mitoaction.org/autism/march-2011-teleconference>> http://www.mitoaction.org/category/autism-categories/related-research>> I believe there is a synergist developmental response, to the full cocktail,> in some children. And in some kids, I think the full positive effects of> carnitine can take months, even years, to be fully realized. Personally, I> think rx carnitine should be tried "long term"... 6 -12 months in kids who> show no overt adverse effects... before you decide if it's helpful or not.> In some, it's slow steady small gains, over time.>> Some ASD children are severely deficient in carnitine.>> Benefits you might observe with rx carnitine, based on what some parents> have reported are:>> increased energy> increased muscle strength> improved motor skills> healthy weight gain (in low weight, FTT kids)> better/increased food consumption> better social connectness> improved immune response, fewer illnesses and faster recovery> more avaliable for therapies, improved cognition- more energy, more> avaliable for learning>> Hope this is helpful,> Alyssa>> > To: "mb12valtrex " <mb12valtrex >> Sent: Wednesday, December 28, 2011 1:26 AM> Subject: Re: carmitine and siezures>>>> My son reacted to the liquid due to artificial flavoring, wonder why you> think liquid is better than tablet? I took him off the tablet recently due> to diarrhea, saw no difference.>> Beth>> Sent from my iPad> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2011 Report Share Posted December 28, 2011 My boys have never taken an OTC carnitine version, so I have no first hand experiences with this in my own children. Only the RX liquid. The recommendation is to always give carnitine with food. In some kids, this helps with GI upset. I don't really know if the RX medication is better tolerated from a GI upset perspective, over OTC brands, I just hear repeatedly that ASD children who had no response on OTC carnitine have developemtal gains on the RX version. They are not an equal product. There is no transdermal version, that I know of anyway, at this time. But for children who have a true "secondary carnitine deficiency" (like my children)... secondary to something unknown... I would doubt that a transdermal version would do what it needs to, to correct it. But as I said, I am just a mom, not an MD. Unfortunately, one thing is not going to help ALL kids with autism... because each child has such unique biochemistry... but for kids with strong bio-markers for mito dysfunction and a suggestive clinical history, a mito cocktail is something justified in a trial under the care of a knowledgeable MD. In the case of my own children, carnitine was only one piece of a larger puzzle... they needed many other suplements to improve developmental symptoms and catch up. Carnitine, folinic acid, CoQ10, creatine monohydrate (Cytotine), B vitamins and many antioxidants... over about 3 years, with intense dietary management and therapy as support. We saw immediate gains with ceratin medications/supplements (carnitine, folinic acid and Cytotine) but the developmental gains that eventually caught them up... took time. My kids are "managed"... if they were "recovered", I'd be eating at Pizza Hut and staying out too late, like the rest of America! ;0) We do a lot to manage their illness and keep them healthy, everyday! But they appear NT to anyone who meets them now... they have come a very long way! We have been very fortunate and this is why I am doing outreach. I do not think my children are some rare anomoly, like some MD's would like us to think. Hannah Poling taught us that lesson... she is diagnosed with an OXPHOS disorder too. There are other children out there, like mine, if we can only identify them sooner... rather than later... before more damage is done. Often children are only diagnosed with mito after a sharp regression following anesthesia, an illness... or fever. Happy to answer any other questions, Alyssa To: "mb12valtrex " <mb12valtrex > Sent: Wednesday, December 28, 2011 10:33 PMSubject: Re: Re: carmitine and siezures Thank alyssa, very helpful! All this carnitine talk has me thinking we need to retry it again. Do you know if the liquid version is easier on the tummy or if there is a way to have it compounded as a transdermal? Both of my kids didn't tolerate well the pure encapsulations version (tried it twice) so we stopped this summer....Many thanks, -- Sent from my Palm Pre This article was published in Autism File magazine last summer. It's a good overview. http://www.mitoaction.org/files/Autism-OXPHOS_1.pdf And this is a link with information about testing: http://www.mitoaction.org/autism/february-2011-teleconference Dr. Fran Kendall, in Atlanta, is a geneticist who has an earnest interest in evaluating kids with autism and suspected mito. You can do a "second opinion consult" with her, via phone, if you have a local MD who can sign for testing. Some parents have been able to get their local pediatrician to sign for the basic metabolic screening labs (listed in these links), which I think is the best starting point. And then a consultation for interpretaion of the testing results (with a mito MD/specialist) is recommended. http://www.mitoaction.org/files/MitoAutism3panel2011.pdf But keep in mind, if you have started carnitine before free and total carnitine values were drawn... you have LOST your child's baseline carnitine lab. Supplementing may (will generally) mask any deficiency that was initially present. We have been working with Dr. O'Hara in CT for many years now. Through my boys, she has become knowledgeable about mito. If you wanted to consult with a biomed MD who knows about mito, I'd recommend her. I know she's using the mito cocktail in ASD kids. The only con is her retainer, she is very $$$. http://ihealthnow.org/aboutus/index.html Here's a link to the main autism website at MitoAction. http://www.mitoaction.org/about-autism-and-mito There is a lot of information there to read. Let me know if you have other questions, happy to help, if I can. ;0) Alyssa To: mb12valtrex Sent: Wednesday, December 28, 2011 7:29 PMSubject: Re: Re: carmitine and siezures Alyssa, what would be the first steps I would take to have my childrentested for mito dysfunction. What kinds of tests should I be lookingto run? I was checking out the mitoaction site in your sig butnothing was showing up in my browser on the pages about testing.> The theory is that liquid is better absorbed, and potentially better> metabolized, in kids with GI dysfunction/malabsorption issues.>> I know that Lee Silsby's in Ohio is compounding a clean (sugar and dye free)> liquid carnitine version for some biomed MD's. You could check with them,> if you want to try a different version.>> In the mitochondrial and organic acidemia community, diarrhea is sometimes> reported as an adverse side effect to prescription levo-carnitine. I have> heard from some that rx Carnitor (not the generic, levo-carnitine) causes> less diarrhea, in some. Also if carnitine doses are too high, then it can> cause diarrhea.>> Carnitine doses are typically split 50% in the am and 50% in the pm.... one> large daily dose could create diarrhea.>> My two sons are on liquid levo-carnitine:>> 36 + pounds- 7 ml daily, 3.5 in am and 3.5 in pm> 46 + pounds- 10 ml daily, 5ml in am and 5 ml in pm>> It is my opinion, and I am just a mom, not an MD, that any child who has a> sharp developmental response from carnitine should pursue testing for> mitochondrial dysfunction. In some cases, these kids have further gains> from adding the additional supplement components of the "mito cocktail".>> http://www.mitoaction.org/autism/march-2011-teleconference>> http://www.mitoaction.org/category/autism-categories/related-research>> I believe there is a synergist developmental response, to the full cocktail,> in some children. And in some kids, I think the full positive effects of> carnitine can take months, even years, to be fully realized. Personally, I> think rx carnitine should be tried "long term"... 6 -12 months in kids who> show no overt adverse effects... before you decide if it's helpful or not.> In some, it's slow steady small gains, over time.>> Some ASD children are severely deficient in carnitine.>> Benefits you might observe with rx carnitine, based on what some parents> have reported are:>> increased energy> increased muscle strength> improved motor skills> healthy weight gain (in low weight, FTT kids)> better/increased food consumption> better social connectness> improved immune response, fewer illnesses and faster recovery> more avaliable for therapies, improved cognition- more energy, more> avaliable for learning>> Hope this is helpful,> Alyssa>> > To: "mb12valtrex " <mb12valtrex >> Sent: Wednesday, December 28, 2011 1:26 AM> Subject: Re: carmitine and siezures>>>> My son reacted to the liquid due to artificial flavoring, wonder why you> think liquid is better than tablet? I took him off the tablet recently due> to diarrhea, saw no difference.>> Beth>> Sent from my iPad> Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 28, 2011 Report Share Posted December 28, 2011 Tammy, I do see the same thing with Ethan after a while and I've had to kick down his dose. He was starting to get nausea (which I thought was related to other scarier things) but I just found out the today that when people have more carnitine than they can handle, then nausea and vomiting become a side effect. That's fantastic info, Alyssa. I love your mito posts! I think everytime I read your mito posts, I'm just blown away. I'm going to read through the links. I do have an DAN MD and a neurologist who will sign for tests, although I'm pretty sure that the harder part is to get interpretation of the mito tests. Can mito issues ever be fully recovered? Do you know if there are people who have treated mito issues enough where it no longer needs treatment or do mito issues require lifelong maintenance? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 29, 2011 Report Share Posted December 29, 2011 The problem right now is that all ASD children should have had some baseline genetic testing, to rule out known mutations and disorders associated with autistic features, at the time of diagnosis. But because the ASD population has been underserved and dismissed for so long now... most children have not had any of this baseline testing yet... so families need to start at the very beginning/ground zero. Chromosomal miccroarray, CMP, acylcarnitine panel. In some cases Rett Syndrome, etc. So initial interpretation of labs/testing involves "ruling many things OUT" first... before mito can be truly discussed and "ruled in". Sadly, no one knows what the long term outcome will be for these kids, as they seem to be a new profile of mito disease/dysfunction emerging. At the 2011 United Mitochondrial Disease Symposium, Dr. Bruce Cohen, now at Akron Children's Hospital, and a leading neurologist/mito MD, did talk about a new form of mito that is "reversible". Because my children are still so young (and still have so many dveleopmental milestones to hit), all the specialists think we should not make any (radical) changes to their cocktail, until they are older, because they are stable and progressing so well developmentally. The thought by some mito MD's, in the mito/genetics community, think that a % of kids become unstable when supplements and medications are withdrawn... and the fear is that they may never regain their baseline. So for now, we are just keeping the full cocktail in hopes of keeping them stable. We know puberty presents new challenges for these kids... and there have been some recent information published that maybe people with complex enzyme deficiencies are at increased risk for developing cancers. We certainly know that long term organ damage is possible in some mito patients. So the future is unknown. I certainly would like to think I could reduce, at a minimum, what my kids take daily, at some point. My thinking is that this process might be able to be started when they are old enough to accurately report how they feel on their supps/medications. They are currently 6 and 4, so they are not old enough to do this yet. But Dr. Saneto (also a leading mito neurologist), from Seattle Children's Hospital, told me that he thinks my kids will need the cocktail on-going, based on his clinical experiences. His thought being that "dramatic cocktail responders" will need the metabolic support ongoing to remain well. Which, as long as my children are happy and doing well developmentally, seems like a small price to pay for excellent quality of life! ;0) ...Half full! But to answer your question, I only know one ASD child who started a full mito cocktail at a very young age who has lost his ASD label... and has now stopped all mito supps/meds. My concern for this child would be that during an illness or fever, that he may need additional mito support to maintain baseline. Regression, under stress, is the concern. In general, mito kids, stay on the meds/supps., indefinately... but I think we don't really know what the future holds for these kids. My youngest son has amazed doctors and therapists for years... so let's hope he continues to do so!! ;0) Improved health to all, Alyssa To: mb12valtrex Sent: Wednesday, December 28, 2011 11:59 PMSubject: Re: Re: carmitine and siezures Tammy, I do see the same thing with Ethan after a while and I've hadto kick down his dose. He was starting to get nausea (which I thoughtwas related to other scarier things) but I just found out the todaythat when people have more carnitine than they can handle, then nauseaand vomiting become a side effect.That's fantastic info, Alyssa. I love your mito posts! I thinkeverytime I read your mito posts, I'm just blown away. I'm going toread through the links. I do have an DAN MD and a neurologist whowill sign for tests, although I'm pretty sure that the harder part isto get interpretation of the mito tests.Can mito issues ever be fully recovered? Do you know if there arepeople who have treated mito issues enough where it no longer needstreatment or do mito issues require lifelong maintenance? Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 29, 2011 Report Share Posted December 29, 2011 I need to look into Lee Silsby. Thank you for all the info. He was on levocarnitine 330 mg twice a day for a year and a half. He is pretty involved, autism, down syndrome and mito deficient complex 4. The one supplement I saw the most improvement on was Longvida/Enhansa. We are suppose to be adding all the mito cocktail back in, but I have to move real slow. Thank you, Beth Sent from my iPad Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 29, 2011 Report Share Posted December 29, 2011 Beth, Has your child taken Leucovorin Calcium (LC) before? It's an RX folinic acid medication. My younger son had a dramatic response to LC. He started it when he was about 15-18 months old. Thought these things might interest you, if you have not seen them yet.Hope they are useful,AlyssaFolate deficiency and Complex IV:Br J Nutr. 2007 May;97(5):855-63.Folate deprivation promotes mitochondrial oxidative decay: DNA large deletions, cytochrome c oxidase dysfunction, membrane depolarization and superoxide overproduction in rat liver.Chang CM, Yu CC, Lu HT, Chou YF, Huang RF.SourceDepartment of Nutritional Science, Fu-Jen University, Hsin-Chuang, Taiwan, ROC.AbstractLittle is known about the biological effect of folate in the protection against mitochondrial (mt) oxidative decay. The objective of the present study was to examine the consequence of folate deprivation on mt oxidative degeneration, and the mechanistic link underlying the relationship. Male Wistar rats were fed with an amino acid-defined diet containing either 8 (control) or 0 (folate-deficient, FD) mg folic acid/kg diet. After a 4-week FD feeding period, significant elevation in oxidative stress was observed inside the liver mitochondria with a 77% decrease in mt folate level (P<0.001), a 28 % reduction in glutathione peroxidase activity (P= 0.0333), a 1.2-fold increase of mt protein carbonyls (P=0.0278) and an accumulated 4834 bp large-scale deletion in mtDNA. The elicited oxidative injuries in FD liver mitochondria were associated with 30 % reduction of cytochrome c oxidase (CcOX) activity (P=0.0264). The defective CcOX activity in FD hepatocytes coincided with mt membrane potential dissipation and intracellular superoxide elevation. Exposure of FD hepatocytes to pro-oxidant challenge (32 microM-copper sulphate for 48 h) led to a further loss in CcOX activity and mt membrane potential with a simultaneous increase in superoxide production. Preincubation of pro-oxidant-treated FD hepatocytes with supplemental folic acid (10-1000 microM) reversed the mt oxidative defects described earlier and diminished superoxide overproduction. Increased supplemented levels of folic acid strongly correlated with decreased lipid peroxidation (gamma - 0.824, P=0.0001) and protein oxidative injuries (gamma -0.865, P=0.0001) in pro-oxidant-challenged FD liver mitochondria. Taken together, the results demonstrated that folate deprivation induces oxidative stress in liver mitochondria, which is associated with CcOX dysfunction, membrane depolarization and superoxide overproduction. The antioxidant activity of supplemental folic acid may partially, if not fully, contribute to the amelioration of pro-oxidant-elicited mt oxidative decay.PMID: 17381984Am J Med Genet. 2001 Oct 1;103(2):128-32.Abnormal folate metabolism and genetic polymorphism of the folate pathway in a child with Down syndrome and neural tube defect.Al-Gazali LI, Padmanabhan R, Melnyk S, Yi P, Pogribny IP, Pogribna M, Bakir M, Hamid ZA, Abdulrazzaq Y, Dawodu A, SJ.SourceDepartment of Paediatrics, Faculty of Medicine and Health Sciences, UAE University, Al Ain, United Arab Emirates. algazali@...AbstractThe association of neural tube defects (NTDs) with Down syndrome (trisomy 21) and altered folate metabolism in both mother and affected offspring provide a unique opportunity for insight into the etiologic role of folate deficiency in these congenital anomalies. We describe here the case of a male child with trisomy 21, cervical meningomyelocele, agenesis of corpus callosum, hydrocephaly, cerebellar herniation into the foramen magnum, and shallow posterior cranial fossa. Molecular analysis of the methylenetetrahydrofolate (MTHFR) gene revealed homozygosity for the mutant 677C-->T polymorphism in both the mother and child. The plasma homocysteine of the mother was highly elevated at 25.0 micromol/L and was associated with a low methionine level of 22.1 micromol/L. Her S-adenosylhomocysteine (SAH) level was three times that of reference normal women, resulting in a markedly reduced ratio of S-adenosylmethionine (SAM) to SAH and significant DNA hypomethylation in lymphocytes. The child had low plasma levels of both homocysteine and methionine and a reduced SAM/SAH ratio that was also associated with lymphocyte DNA hypomethylation. In addition, the child had a five-fold increase in cystathionine level relative to normal children, consistent with over-expression of the cystathionine beta synthase gene present on chromosome 21. We suggest that altered folate status plus homozygous mutation in the MTHFR gene in the mother could promote chromosomal instability and meiotic non-disjunction resulting in trisomy 21. Altered folate status and homozygous TT mutation in the MTHFR gene in both mother and child would be expected to increase the risk of neural tube defects. The presence of both trisomy 21 and postclosure NTD in the same child supports the need for an extended periconceptional period of maternal folate supplementation to achieve greater preventive effects for both NTD and trisomy 21.Copyright 2001 Wiley-Liss, Inc.PMID: 11568918 J Hum Genet. 2007;52(11):943-53. Epub 2007 Oct 13.Maternal gene polymorphisms involved in folate metabolism and risk of Down syndrome offspring: a meta-analysis.Zintzaras E.SourceDepartment of Biomathematics, University of Thessaly School of Medicine, Papakyriazi 22, Larissa 41222, Greece. zintza@...AbstractStudies investigating the association between gene polymorphisms involved in homocysteine/folate metabolism and Down syndrome (DS) have reported contradictory or inconclusive results. A meta-analysis of 11 case-control studies relating MTHFR C677T, MTHFR A1298C and MTRR A66G gene polymorphisms to the maternal risk of DS was carried out. For MTHFR C677T polymorphism the heterogeneity between studies was significant (P=0.03) and the random effects (RE) pooled odds ratio (OR) was not significant: RE OR=1.18 (0.99-1.40). The recessive model for allele MTHFR 677T showed nonsignificant heterogeneity overall (P=0.21) and the association was not significant: fixed effects (FE) OR=1.27 (0.98-1.64). However, sensitivity analysis changed the pattern of results and the association became marginally significant [FE OR=1.31 (1.01-1.71)]. The dominant model showed no association. Finally, statistically significant associations between the MTHFR A1298C and MTRR A66G gene polymorphisms and the risk of DS were not found. The cumulative meta-analysis of MTHFR C677T showed a trend toward an association as the amount of data increased, and the recursive cumulative meta-analysis indicated that there was insufficient evidence for claiming or denying an association for all gene polymorphisms. In addition, there was no difference between the magnitude of effect observed in large versus small studies. Large and rigorous case-control studies that investigate gene-gene and gene-environment interactions need to be performed before conclusive claims about the genetics of DS can be made.PMID: 17934692 Biofactors. 2008;32(1-4):161-7.Coenzyme Q10 and oxidative imbalance in Down syndrome: biochemical and clinical aspects.Tiano L, Padella L, Carnevali P, li O, Bruge F, Principi F, Littarru GP.SourceInstitute of Biochemistry, Polytechnic University of the Marche, Ancona, Italy. luca.tiano@...AbstractDown syndrome (DS) is a chromosomal abnormality (trisomy 21) associated with mental retardation and Alzheimer-like dementia, characteristic change of the individual's phenotype and premature ageing. Oxidative stress is known to play a major role in this pathology since a gene dose effect leads to elevated ratio of superoxide dismutase to catalase/glutathione peroxidase compared to controls in all age categories suggesting that oxidative imbalance contributes to the clinical manifestation of DS. Hyperuricemia is another feature of DS that has an interesting relationship with oxidative stress since uric acid represents an important free radical scavenger. However its formation is connected to the conversion of Xanthine dehydrogenase (XDH) to Xanthine oxidase (XO) which leads to concomitant production of free radicals. Here we report that plasma samples from DS patients in pediatric age, despite an increased total antioxidant capacity, largely due to elevated Uric acid content (UA), present significantly elevated markers of oxidative damage such as increased allantoin levels. Moreover DS plasma samples do not differ from healthy control ones in terms of Coenzyme Q10 and susceptibility to peroxidative stimuli. On the contrary, lymphocyte and platelet CoQ10 content was significantly lower in DS patients, a fact that might underlie oxidative imbalance at a cellular level.PMID:19096112Pediatr Neurol. 2007 Dec;37(6):398-403.Coenzyme Q10 (ubiquinol-10) supplementation improves oxidative imbalance in children with trisomy 21.Miles MV, BJ, Chalfonte- ML, Horn PS, Hickey FJ, Schapiro MB, Steele PE, Tang PH, Hotze SL.SourceDivision of Pathology and Laboratory Medicine, Cincinnati Children's Hospital Medical Center and University of Cincinnati Medical Center, Cincinnati, OH 45229-3039, USA. michael.miles@...AbstractEndogenous coenzyme Q10 is an essential cofactor in the mitochondrial respiratory chain, a potent antioxidant, and a potential biomarker for systemic oxidative status. Evidence of oxidative stress was reported in individuals with trisomy 21. In this study, 14 children with trisomy 21 had significantly increased (P < 0.0001) plasma ubiquinone-10 (the oxidized component of coenzyme Q10) compared with 12 age- and sex-matched healthy children (historical controls). Also, the mean ratio of ubiquinol-10 (the biochemically reduced component):total coenzyme Q10 was significantly decreased (P < 0.0001). After 3 months of ubiquinol-10 supplementation (10 mg/kg/day) to 10 patients with trisomy 21, the mean ubiquinol-10:total coenzyme Q10 ratio increased significantly (P < 0.0001) above baseline values, and 80% of individual ratios were within normal range. No significant or unexpected adverse effects were reported by participants. To our knowledge, this is the first study to indicate that the pro-oxidant state in plasma of children with trisomy 21, as assessed by ubiquinol-10:total coenzyme Q10 ratio, may be normalized with ubiquinol-10 supplementation. Further studies are needed to determine whether correction of this oxidant imbalance improves clinical outcomes of children with trisomy 21.PMID:18021919 Interesting that this implies that creatine levels are INCREASED in DS... FormatSummary (text)Abstract (text)MEDLINEXMLPMID ListCSVCreate File1 selected item: 21262400FormatSummarySummary (text)AbstractAbstract (text)MEDLINEXMLPMID ListMeSH and Other DataE-mailSubjectAdditional textE-mail"SPAM" filtering software noticeAdd to ClipboardAdd to CollectionsOrder articlesAdd to My BibliographyInt J Dev Neurosci. 2000 Dec;18(8):833-41.In vitro 1H and 31P NMR spectroscopic evidence of multiple aberrant biochemical pathways in murine trisomy 16 brain development.Yao FS, Caserta MT, Wyrwicz AM.SourceDepartment of Psychiatry and Behavioral Sciences, Northwestern University Medical School, Chicago, IL 60611, USA. faith@...AbstractNuclear magnetic resonance (NMR) spectroscopy was used to evaluate cytosolic compounds and membrane phospholipids simultaneously in trisomy 16 (Ts16) and euploid (control) murine brain at fetal day 15 in order to examine the cellular biochemistry that underlies the neurodevelopmental consequences of chromosome triplication in this model of Down syndrome (DS). Proton NMR spectroscopic analysis of brain tissue extracts demonstrated decreased levels of choline and increased levels of myo-inositol (MI) in Ts16 brains compared with control. These data are consistent with the cholinergic deficits and elevated MI levels previously described in Ts16. Compared with euploid brains. Ts16 brains also possess higher levels of creatine, adenosine, and tyrosine. Increased levels of MI and creatine, compounds that are localized to glia, imply abnormalities in the trophic environment of Ts16 brain. Phosphorus NMR spectroscopic analysis of extracts further revealed elevated levels of anionic phospholipid membrane components, such as phosphatidylinositol (PtdIno) and phosphatidylethanolamine, in Ts16 brains. Since these compounds are confined to the inner leaflet of the membrane, the findings suggest that membrane composition is altered specifically in the cytosolic bilayer at this stage. Together our proton and phosphorus NMR spectroscopic results indicate that multiple biochemical pathways are affected in Ts16 brain development. Understanding the effects of these aberrations may elucidate the processes that lead to neural dysfunction and Alzheimer's disease (AD) neuropathology in DS individuals.PMID: 11154853 Possible rationale for response to Enhansa:Could also just be: anti-inflammatory, antioxidant activity of curcumin Biol Pharm Bull. 2006 Jul;29(7):1470-5.Curcumin decreases binding of Shiga-like toxin-1B on human intestinal epithelial cell line HT29 stimulated with TNF-alpha and IL-1beta: suppression of p38, JNK and NF-kappaB p65 as potential targets.Moon DO, Jin CY, Lee JD, Choi YH, Ahn SC, Lee CM, Jeong SC, Park YM, Kim GY.SourceFaculty of Applied Marine Science, Cheju National University, South Korea.AbstractIntestinal epithelial cells (IECs) have been known to produce galactose-alpha1,4-galactose-beta1,4-glucose ceramide (Gb3) which plays a pivotal role in the mucosal immune response. In particular, Shiga-like toxins (Stx) can induce apoptosis of IECs in the development of hemolytic uremic syndrome (HUS) through binding on Gb3. Therefore, it has been hypothesized that down-regulation of Gb3 (or binding of Stx) prevents Stx from damaging in IECs. This study investigated whether curcumin, having various biological properties such as being anti-bacterial, anti-viral and anti-cancer, could decrease binding of Stx and the related signal pathway. Curcumin significantly inhibited the binding of Stx and the production of Gb3 synthase (GalT6) mRNA in HT29 IECs stimulated with TNF-alpha and IL-1beta. Additionally, curcumin was able to inhibit mitogen-activated protein kinases (MAPKs), such as p38 and JNK, but not ERK1/2, degradation of IkappaB or translocation of NF-kappaB p65. Furthermore, curcumin significantly attenuated Stx-1 induced cell death and IL-8 expression. In summary, these data link Gb3 expression in HT29 cells stimulated with TNF-alpha and IL-1beta and suggest that blocking of Stx-binding by curcumin may prevent the Stx-associated HUS.PMID: 16819191Eur J Neurosci. 2004 May;19(10):2711-9.Increased MAP kinase activity in Alzheimer's and Down syndrome but not in schizophrenia human brain.Swatton JE, Sellers LA, Faull RL, Holland A, Iritani S, Bahn S.SourceNeurobiology Programme, The Babraham Institute, Babraham, Cambridge, CB2 4AT, UK.AbstractAbnormal phosphorylation of tau is a feature of Alzheimer's disease (AD), which develops prematurely in Down syndrome (DS) patients. Cognitive impairment is also recognized as a clinical characteristic of schizophrenia, which does not appear to be associated with tau-aggregate formation. Several kinases can phosphorylate tau in cell-free assays. Here we show increased activity of mitogen-activated protein kinases (MAPKs) (including ERK1/2, SAPKs and p38) in post mortem AD and DS brains, which could not be accounted for by expression changes. In contrast, glycogen synthase kinase-3 activity (GSK-3 alpha beta) was reduced significantly. Examination of tau in AD and DS using antibodies selective for MAPK phosphorylation sites showed increased immunoreactivity. In addition, phosphorylation of S(199), reportedly a selective substrate for cyclin-dependent kinase-5 (cdk5) or GSK-3 alpha beta was only observed in AD samples, which showed a concomitant increase in the expression of p25, the enhancing cofactor for cdk5 activity. However, in schizophrenia brain, MAPK-phosphorylated tau was unchanged compared to matched controls, despite similar expression levels to those in AD. The activities of the MAPKs and GSK-3 alpha beta were also unchanged. These data demonstrate that in AD and DS, enhanced MAPK activity, which has an established role in regulating neuronal plasticity and survival, can account for irregular tau phosphorylation, and that the molecular processes involved in these neurodegenerative disorders are distinct from those in schizophrenia. These data also question the significance of GSK-3 alpha beta, as much previous work carried out in vitro has placed this kinase as a favoured candidate for involvement in the pathological phosphorylation of tau.PMID: 15147305 To: "mb12valtrex " <mb12valtrex > Sent: Thursday, December 29, 2011 10:48 PM Subject: Re: carmitine and siezures I need to look into Lee Silsby. Thank you for all the info. He was on levocarnitine 330 mg twice a day for a year and a half. He is pretty involved, autism, down syndrome and mito deficient complex 4. The one supplement I saw the most improvement on was Longvida/Enhansa. We are suppose to be adding all the mito cocktail back in, but I have to move real slow. Thank you, Beth Sent from my iPad Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 30, 2011 Report Share Posted December 30, 2011 Alyssa, I read info on the folinic acid or folate issue and asked out DAN to test him if possible, she said she would just prefer to start him on the leucovarin. So, while i was waiting for the RX, I started him on folinic acid at high doses, and kept increasing so I would gear him up for the leucovarin. I was seeing nice results with attention and some energy, however 3 days into the leucovarjn , I lost him into his world again, stopped the RX, he came back. So, I think it was too high and now afraid to start any of it again. I will read all of your post and think of more questions, but I just feel so damned if you do/damned if you don't! I feel like we are running out of foods and drink choices. Feel like I can no longer tell what supplements work or not. He has been GFCF for 2 years, strict Spectrum Protocol diet for about 6 months, then this Thanksgiving, it became evident he has phenols and oxalate issues, so, I have removed the foods. Except for rice milk, I felt it was the lesser of 2 evils with regards to oxalates. He refuses coconut milk. I even tried to give him cow's milk- gasp- because I feared dehydration. He refused that as well. However, he did drink some and I saw no negative reaction to it. I have given him a spoonful of greek yogurt each day this last week, no issues with that either. So, wondering, if dairy is not an issue for him and I can let him small amounts? He has come a long way, last year, I could not even get off the floor, he zero energy. My current issues are: what to give him to drink minus diluted cherry juice with coconut water? What are yeast symptoms? He did horrible on Diflucan, now he is going to get amphotericin B, which i am scared to even give to him. He swallows so hard and constantly, pushing tons of air in his belly? Sticks his whole hand down his throat- though that has improved some with removal of sweet potatoes-odd? He is waking up at very early hours-way before the sun. He giggles and runs around flapping- could he have Angelmans as well? He pushes his thumbs in his eyes? And since starting no phenols, oxalates, salicylates diet, his urine stinks so bad and his poop is like sludge? What am I looking for with milk issues? This consumes me! Beth Sent from my iPad Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 30, 2011 Report Share Posted December 30, 2011 Sweet potatoes are high oxalate.Removing oxalate produces a detox of it. The cells " dump " the stored oxalate and all sorts of unpleasant detox reactions can occur. To help ameliorate this, add minerals in, that is calcium, magnesium, zinc. Oxalate detox also chelates copper so don't be surprised if on low oxalate diet for several months if it turns out that the copper values go from high to low. Amazingly enough oxalate also can chelate metals so as it is leaving the body, may be taking those stored things(metals) as well. Â Alyssa, I read info on the folinic acid or folate issue and asked out DAN to test him if possible, she said she would just prefer to start him on the leucovarin. So, while i was waiting for the RX, I started him on folinic acid at high doses, and kept increasing so I would gear him up for the leucovarin. I was seeing nice results with attention and some energy, however 3 days into the leucovarjn , I lost him into his world again, stopped the RX, he came back. So, I think it was too high and now afraid to start any of it again. I will read all of your post and think of more questions, but I just feel so damned if you do/damned if you don't! I feel like we are running out of foods and drink choices. Feel like I can no longer tell what supplements work or not. He has been GFCF for 2 years, strict Spectrum Protocol diet for about 6 months, then this Thanksgiving, it became evident he has phenols and oxalate issues, so, I have removed the foods. Except for rice milk, I felt it was the lesser of 2 evils with regards to oxalates. He refuses coconut milk. I even tried to give him cow's milk- gasp- because I feared dehydration. He refused that as well. However, he did drink some and I saw no negative reaction to it. I have given him a spoonful of greek yogurt each day this last week, no issues with that either. So, wondering, if dairy is not an issue for him and I can let him small amounts? He has come a long way, last year, I could not even get off the floor, he zero energy. My current issues are: what to give him to drink minus diluted cherry juice with coconut water? What are yeast symptoms? He did horrible on Diflucan, now he is going to get amphotericin B, which i am scared to even give to him. He swallows so hard and constantly, pushing tons of air in his belly? Sticks his whole hand down his throat- though that has improved some with removal of sweet potatoes-odd? He is waking up at very early hours-way before the sun. He giggles and runs around flapping- could he have Angelmans as well? He pushes his thumbs in his eyes? And since starting no phenols, oxalates, salicylates diet, his urine stinks so bad and his poop is like sludge? What am I looking for with milk issues? This consumes me! Beth Sent from my iPad -- --------------------------------------------------------------------------------------------Click to find info about Vitamins and Minerals:http://www.facebook.com/note.php?note_id=10150543521682565 --------------------------------------------------------------------------------------------Click to find links to info about the Low Oxalate Diet :http://www.facebook.com/note.php?note_id=10150543495292565 ------Toni------Mind like a steel trap...Rusty and illegal in 37 states. Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 30, 2011 Report Share Posted December 30, 2011 One more concern is which just started is: cracked lips, deep and bloody? Also, wanted to add, he had a mouth swab at St s through a research program that determined his extreme deficiency in complex 4. I have another son with DS that they used as a control. Very interesting stuff that I so wish I was not a part of! Sent from my iPad Quote Link to comment Share on other sites More sharing options...
Guest guest Posted December 30, 2011 Report Share Posted December 30, 2011 I personally think this is somehow linked to not processing fatty acids correctly. My older son has this symptom too and it's always worse during cold months. He has a lot of disruptions in his acylcarnitine profile suggesting disruption in processing of long chain fats. He's had the genetic testing for vlcad, very long chain fatty acid oxidation defect, but it was "normal"/negative. And he goes wild on some supplemental oils... Mct oil seems to be best for him.Peace and improved health in the new year!Alyssa From: Duciaome ; To: mb12valtrex <mb12valtrex >; Subject: Re: carmitine and siezures Sent: Fri, Dec 30, 2011 4:09:03 PM One more concern is which just started is: cracked lips, deep and bloody? Also, wanted to add, he had a mouth swab at St s through a research program that determined his extreme deficiency in complex 4. I have another son with DS that they used as a control. Very interesting stuff that I so wish I was not a part of! Sent from my iPad Quote Link to comment Share on other sites More sharing options...
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