Dizzysillyak Posted February 21, 2011 Report Share Posted February 21, 2011 Hi All,I saw a special report the other day on the news about Pompes disease and how it's caused by too much glucose being stored in the cells .... http://www.wftv.com/health/26900211/detail.htmlBACKGROUND: Pompe Disease, according to the National Institutes of Health, is an inherited disorder most commonly caused by a buildup of sugar the cell's in the body. This buildup of sugar causes certain cells in the body to function improperly.I'm not sure what this means just yet ... But maybe we have a form of glycogen storage disease where our bodies don't store enough or release enough glucose from our liver or muscles when we need it. This could be caused by our bodies creating too much insulin because insulin counteracts glucose ... and would lead to chronic bodywide fatigue, etc ... our cells need glucose to function ... Here's more info on this ... but I just started looking ... http://www.mda.org.au/Disorders/Metabolic/GSDIII.aspFWIW ... I noticed a few years ago that I felt pretty good when I'm rested until I'd been active for more than 15 - 20 minutes. Which just happens to be how long our bodies use available glucose before it needs the liver to kick in and produce more ..OK, I probably said that all wrong but I tried ... Ideas ? thanks ... DizzyPS. I would've added this to the low glucose thread but it was getting too long for me to follow ... Here it is though and there's some great info in this. Quote Link to comment Share on other sites More sharing options...
dianne.fraser Posted February 21, 2011 Report Share Posted February 21, 2011 DizzyI've been referred to an adult genetic metabolic diseases service by a metabolic specialist who has queried whether I might have one of a couple of conditions, including one of 'the rarer glycogen storage disorders'. I've read up on them, and the only one that fits for me and my family is GSDVII (also known as Tarui). Tarui is characterised by exercise and carb intolerance, but there are a number of sub-types with different characteristics. Some affected people have muscle cramps and pain after exercise; others experience general weakness; there have been reports of people with 'late onset' Tarui who experience slowly progressive weakness leading to severe disability in daily life. Does that sound like dysautonomia to you? I can't find any mention of a link between the two in the literature, or any study of physiological damage caused by unmanaged Tarui. Its also been found that there is a build-up of stuff in the blood after exercise (eg ammonia) which disperses with bedrest. You recover with bedrest?? So do I. For the first few times after I discovered bedrest, I would bounce out of bed after two weeks thinking I was cured, and immediately exercise.... I was so baffled to find myself going downhill each time.An old but interesting article on GSDVII is 'Phosphofructokinase deficiency; past, present and future' by Nakajima et al (2002) - I don't know how to create links, but you can google it.This is the rarest of the GSDs, and I think its improbable that I have it, but I need to have it ruled out, not just for me but also for the others in my family who have abnormal fatigue and abnormal response to exercise.My appointment at the genetic metabolic diseases unit is March 2 (next week).Dianne Quote Link to comment Share on other sites More sharing options...
rach73 Posted February 21, 2011 Report Share Posted February 21, 2011 Hi,I have a friend that suffers with a type of this disease they are also known as mitochondrial diseases. She has the glycogen storage one and developed it later in life.On the Facebook page of POTS UK there is a posting that Blair Grubb is doing research into the link between mitochondrial diseases and dysautonomia. Blair Grubb looking at possibility of POTS being caused by mitochondrial abnormality: http://utnews.utoledo.edu/index.php/12_10_2010/utmc-researchers-find-link-between-mitochondrial-cytopathies-and-autonomic-nervous-system-functionsorry I am unsure how to put links in properly, if its not done correctly could someone be an absolute star and sort it out?ThanksRach Quote Link to comment Share on other sites More sharing options...
Dizzysillyak Posted February 21, 2011 Author Report Share Posted February 21, 2011 Hi,I have a friend that suffers with a type of this disease they are also known as mitochondrial diseases. She has the glycogen storage one and developed it later in life.On the Facebook page of POTS UK there is a posting that Blair Grubb is doing research into the link between mitochondrial diseases and dysautonomia. Blair Grubb looking at possibility of POTS being caused by mitochondrial abnormality: http://utnews.utoledo.edu/index.php/12_10_2010/utmc-researchers-find-link-between-mitochondrial-cytopathies-and-autonomic-nervous-system-functionsorry I am unsure how to put links in properly, if its not done correctly could someone be an absolute star and sort it out?ThanksRachThanks Rach, This article looks like what I was talking about ... “We then began to look at a little-known group of disorders called mitochondrial cytopathies. The mitochondria are small bacteria-like organelles within human cells that generate energy for normal cellular function,” Grubb explained. “The mitochondria can stop working properly if they lack any one of a series of critical enzymes. This has been known to cause muscle weakness and wasting, as well as disturbances in brain and gastrointestinal function.”I wonder if these are connected to bacteria somehow .. it seems like we need these more than we thought. My doc has been saying that my mitochondria are damaged but I never quite understood what she meant ... still don't ... lol ... but I'm getting the picture... I wonder what enzymes are missing ? I have multiple food intolerances and celiac disease so missing enzymes is nothing new to me ... tc ... dizzy Quote Link to comment Share on other sites More sharing options...
Dizzysillyak Posted February 21, 2011 Author Report Share Posted February 21, 2011 DizzyI've been referred to an adult genetic metabolic diseases service by a metabolic specialist who has queried whether I might have one of a couple of conditions, including one of 'the rarer glycogen storage disorders'. I've read up on them, and the only one that fits for me and my family is GSDVII (also known as Tarui). Tarui is characterised by exercise and carb intolerance, but there are a number of sub-types with different characteristics. Some affected people have muscle cramps and pain after exercise; others experience general weakness; there have been reports of people with 'late onset' Tarui who experience slowly progressive weakness leading to severe disability in daily life. Does that sound like dysautonomia to you? I can't find any mention of a link between the two in the literature, or any study of physiological damage caused by unmanaged Tarui. Its also been found that there is a build-up of stuff in the blood after exercise (eg ammonia) which disperses with bedrest. You recover with bedrest?? So do I. For the first few times after I discovered bedrest, I would bounce out of bed after two weeks thinking I was cured, and immediately exercise.... I was so baffled to find myself going downhill each time.An old but interesting article on GSDVII is 'Phosphofructokinase deficiency; past, present and future' by Nakajima et al (2002) - I don't know how to create links, but you can google it.This is the rarest of the GSDs, and I think its improbable that I have it, but I need to have it ruled out, not just for me but also for the others in my family who have abnormal fatigue and abnormal response to exercise.My appointment at the genetic metabolic diseases unit is March 2 (next week).DianneHi Dianne,Interesting post .. thanks ... I would love to go see a metabolic specialist .. I have exercise and carb intolerance too. I can only ride the recumbant bike for abuot 2 minutes and then I have to rest for about 20 ... otherwise, my muscles and brain just don't feel right ..I CAN do exercises laying down though ... just nothing aerobic. I'm seeing my Cardiologist next week to see if it's connected to my LBB but I really think it's a glucose problem ... I find that if I eat sugars while I'm active, I won't get as fuzzy headed but if I don't, then it happens quicker and eventually have to lay down .. I have what's called post exertional malaise .. meaning if I exercise or over do it I'm exhausted for 1 - 3 days later ... for me, even running to the grocery store can bring this on ... this is due to something accumulating in my blood while I'm active .. I've never tried resting in bed for more than a few days ...but I have to lay down every few hours for an hour in order to function ... my problems start within a few minutes of standing though because my BP drops when I stand up (orthostatic intolerance) ... then it's only a matter of time before I HAVE to lay down again ... ok, gotta go lay back down ... tc ... dizzy Quote Link to comment Share on other sites More sharing options...
sue1234 Posted February 21, 2011 Report Share Posted February 21, 2011 This all sounds relevant to alot of our issues. I can't do any exercise because of the vascular system, so I feel my muscles probably are "weak" from 5 years of not being able to do anything with them, in my case.I really appreciate the "scientific" talk! I think it is so beneficial to our cases when we can brainstorm our issues.I have been doing some research in the intestinal area, but haven't gathered enough "evidence" to make a "presentation". I have a theory I'm working on, and am getting ready to be my own "test subject" with the help of a new doctor I will see in the near future. This doctor works in the area I'm researching, so hopefully will help me on this issue. If it flops, oh well, I am no worse off! If it works, well, I will share!Do let us know what y'all find out with your testing. It could be very informative to some people here and how they might look into the causes of their dys. Quote Link to comment Share on other sites More sharing options...
toddm1960 Posted February 21, 2011 Report Share Posted February 21, 2011 I don't think there's any doubt that as diagnostic testing for mitochondiral dysfunctions gets easier and cheaper than muscle biopsy's are, you'll see more and more of us diagnosed with an underlying mito problem. Quote Link to comment Share on other sites More sharing options...
Sarah4444 Posted February 21, 2011 Report Share Posted February 21, 2011 This is a really interesting topic, please keep us posted! Quote Link to comment Share on other sites More sharing options...
Dizzysillyak Posted February 21, 2011 Author Report Share Posted February 21, 2011 This all sounds relevant to alot of our issues. I can't do any exercise because of the vascular system, so I feel my muscles probably are "weak" from 5 years of not being able to do anything with them, in my case.I really appreciate the "scientific" talk! I think it is so beneficial to our cases when we can brainstorm our issues.I have been doing some research in the intestinal area, but haven't gathered enough "evidence" to make a "presentation". I have a theory I'm working on, and am getting ready to be my own "test subject" with the help of a new doctor I will see in the near future. This doctor works in the area I'm researching, so hopefully will help me on this issue. If it flops, oh well, I am no worse off! If it works, well, I will share!Do let us know what y'all find out with your testing. It could be very informative to some people here and how they might look into the causes of their dys.Hi Sue,We've been working on this for awhile now ... and I really appreciate this too. I started excercising while laying down in Oct 2010. Nothing aerobic though. In fact, if my heart starts pumping the least bit too hard, I stop and rest until I recover. It would be futile to continue because I lose my muscle strength. When I started, I couldn't do one sit-up and as long as I'm rested now I can 20 easily. Same with pushups. This is the only way I can exercise and not get fuzzy headed or weak. I was surprised to find out that I could build muscles after feeling too weak to stand up for 20 years. Evidently, my blood flow problems were interferring ... JSYK this hasn't helped my OI yet .. I'm not medically trained but it appears that some of my muscle weakness resolved when I started taking Country Life Active B12 back in June 2010. I've had this is varying forms since 1990. If you google active B12 you can see what they say about it ... Apparently I wasn't breaking down the other forms of B12 and need this one. I'm eager to hear what you're trying. I've been experimenting with taking more digestive enzymes lately. And now that I think about it, I haven't looked at what enzymes are needed to break down carbs or sugars. Of course, for any newbies who're reading this, all supplements should be used with caution and taken in small doses at first. Here's a link for digestive enzymes ... http://www.vitamins-supplements.org/digestive-enzymes/gotta run ... tc ... dizzyHi Todd,It's great to hear from others who've experienced this. Thanks ... Hi Sarah,It would be GREAT if this pans out ... tc ... Quote Link to comment Share on other sites More sharing options...
dianne.fraser Posted February 21, 2011 Report Share Posted February 21, 2011 Dizzy - also look at the fatty acid oxidation disorders - these can also impact on exercise tolerance. I wish you could see my metabolic specialist - she was fabulous, but she's here in Australia. I think she'd be in heaven if she had a steady stream of patients from the Forum.... Good luck with your search - let us all know where it takes you.Dianne Quote Link to comment Share on other sites More sharing options...
Dizzysillyak Posted February 23, 2011 Author Report Share Posted February 23, 2011 Dizzy - also look at the fatty acid oxidation disorders - these can also impact on exercise tolerance. I wish you could see my metabolic specialist - she was fabulous, but she's here in Australia. I think she'd be in heaven if she had a steady stream of patients from the Forum.... Good luck with your search - let us all know where it takes you.DianneThanks. I'll look at that too ... at this point, my labs point to glucose problems though. My GTT + insulin shows chronic hypoglycemia and too much insulin. And I have fructose intolerance ... I was looking at digestive enzymes today and came up with the following. I was thinking that maybe anyone with celiac disease who isn't feeling 100% should be taking these ? I've been taking enzymes (mostly Enzymedica's) off and on for years but never the Gastro (was V-gest) and it has several enzymes that I've never taken. http://www.enzymedica.com/products/Gastro#tabsectionand here's what those enzymes do for us ... http://www.enzymedica.com/enzyme_specialists.phpHere's an overview of digestive enzymes ... http://www.annecollins.com/digestion-of-carbohydrate.htmWhew ... tc ... dizzyPS .. does anyone here get petite mals and feel better is they eat or drink a tiny bit of something sweet ? I've had these since I was a kid but didn't realize my staring episodes were actually petite mals. Quote Link to comment Share on other sites More sharing options...
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