Mitochodrial/Metabolic Disorder-My Latest Diagnosis

Discussion in 'Fibromyalgia Main Forum' started by hermitlady, Dec 2, 2008.

  1. hermitlady

    hermitlady Member

    I got a phone call from my Dr last night about some of my most recent blood and urine tests. He has checked Amino Acids, and several things related to Mitochondrial function (where each cell produces energy). Basically, I am one big Bio-Chemical mess!

    I have almost zero Carnitine, sky-high Histadine levels (which is toxic and kills brain cells!, causes seizure disorders, "Histadine Anemia" is what he called it), no output of Glutamine in urine (body is holding onto it for some reason), high Glycine, low Argenine, Creatinine was either too high or too low (can't remember), low Theanine, Pyruvate was normal. There were others that I'm sure I didn't write down, and more test results are still coming in.

    I'm blown away by all of this, but glad something FINALLY showed up in labwork. This Biochem stuff is very complicated and I'm not clear yet on how it all works. The Krebs Cycle, metabolism, energy production, break down of foods for body to use as many things involved.

    My doc is a GP, but he has a 4 yr old son w Autism so he's been learning a lot about all of this stuff. Many theories on causes and testing of biochem of Autism patients also overlap over to CFS/FM. I know I've tried to understand the Methylation stuff that people have posted about, but it's pretty confusing. My brain is fried, and now I know why!

    I am prescribed the following, and am waiting for delivery so I can get started w treatment......

    Methyl B12 injections, preservative free, given at home every 3 days.

    Trimethyl Glysine (TMG) w Folinic Acid and Methyl B12.

    Acetyl Carnitine 1000 mg

    Alpha Lipoic Acid

    EFA supplements


    Increase Protein in diet

    Amino Acid powdered drink mix

    L- Theanine

    B Complex, D3 and Multi Vits

    This is for now, we'll see what else shows up when the rest of the labs come in.

    Dr wants me to go to UC San Diego to their Metabolic and Mitochondria Disease Center. Apparently there are very few places that treat this problem and UCSD is the best. It's about 2 hrs from where I live and I still have to call them and figure out if my insurance will cover some of it. I'm quite overwhelmed by all of this to say the least.

    My crashes of fatigue have been so incredibly bad the last few months. Thought it was my Adrenals, but apparently that's just a small part of it. I feel that every muscle fiber and organ in my body is exhausted and barely functioning at times. Scary and seeming to get worse w every crash.

    If anyone has any suggestions as to where I can learn more about all of this (in a simple explanation since my brain is sooo fogged!), I'd appreciate any input. I have done a bit of searching online, including here, but it's all quite a blurr to me.

    Just wanted to share my latest experiences, at least something showed up "abnormal" for a change. My Dr was very excited last night when he called, but explained that it will be VERY difficult to treat. All I can do is hope and try. Thanks for listening.

    xxxooo Hermit
    [This Message was Edited on 12/09/2008]
  2. deliarose

    deliarose New Member

    I would print off Rich Van K's papers and give them to your doc. You may want to introduce him to amy yasko's work too.

    I have been doing yasko for coming up on 2 years...and I am about 30 percent improved. It all seems to be coming together ....but very slowly. I have had CFS for about 13 yrs.

    And actually, I think the Vitamin Diagnostics Methylation panel is the most useful test....or let's just say it's essential. Rich has written lots about this on this board. I will probably not be around to answer questions.. not on this board much any more.

    Good luck.

    [This Message was Edited on 12/02/2008]
  3. hermitlady

    hermitlady Member

    I have a feeling I'll be spending a lot of time researching all of this....

    Thanks for your input.

    Anyone else???

    I called the UCSD Dr and found out there's a waiting list thru March, and that they have to review my case before I can even be put on the list. I could be in a coma by then, this scares me so much.

    I just wish I knew what to do until then. I'll be receiving my B12 today so I can start giving myself shots asap. My Dr is going to have to keep me alive until I get accepted into the other Dr's office!
    [This Message was Edited on 12/03/2008]
  4. Wolverine

    Wolverine Member

    Interesting that he got this test done for you, sounds like he's putting you on the right track. I know the feeling of not wanting to wait months for an appointment because 'who knows' how we could be by then! I think this often when waiting around for things to be done, especially when almost in bed 24hrs a day and as brain fogged as a chimeny.

    That's a really good supplement list though.. you should tell a difference on all that stuff within a while. Not sure how long, could be a week or less, may take a month. But those are really the things that should get the mitochondrial system going. Especially things like acetyl carnitine if you're low on that. All the amino acids should help, specially the combination drink. CoQ10 would be good too in high doses.

    Optimising D3 can help, which is what im trying to do at the moment. I've orederd and waiting for 5000iu caps which i will take one daily of. This is sposed to be up to 100nmol/l in the blood for ppl with CFS to feel better. Mine was like 38nmol/l, then even after over a month on 2000iu a day its still only up to 58nmol/l. My new nat/nutritionist said it needs to be at 100nmol/l for CFS.

    Are you on B complex already? Or havent been? If not, this can make a decent difference in itself.

    Also L-Tyrosine.. if you can tolerate it, it can really help wake you up, as it is the direct precursor to epinephrine and dopamine. Again it's something for me that i have to go slow with or i get massive headaches, but thats common for me. I usually stop it after one dose due to this reason, but recently on advice from a few, find that it is important to take but in super tiny doses, and build it up, as this will eventually help the issue and enable tolerance. Im getting empty capsules to make up low doses of the things i cant tolerate but will help. Also i'm getting Acetyl-L-Tyrosine as it's easier again for the body to use than standard tyrosine.

    Let us know how u get on with all those supps, & thanks for thinking of me too! Hugs.
  5. PVLady

    PVLady New Member

    I am very interested in your testing. I am also in S. California and was wondering if you could please tell me your doctor's name. I would like to consider seeing him. My family doctor does not seem interested in checking these things and I am sure I also have metabolic problems, etc.

    I did start using a HCH "Releasor" which has Arginine, Glycine, etc, I have noticed a difference in just a couple of days - just in my overall well being and stamina. Weird, but I am a little tearful, but not depressed.

  6. hermitlady

    hermitlady Member

    I live in Riverside and my Dr's name is Dr. Elias Sanchez, he's also in Riverside on Magnolia Ave. He's a GP and is my primary care doc, I have Blue Cross HMO. He is the warmest, kindest doctor I've ever had. He spends at least 30 minutes sitting and talking w me at EVERY office visit and is always open to discuss things I have found in my own research. He's probably in his late 30's and still has that zest for learning and helping his patients as much as possible.

    Where do you live? I'd love to get in contact w you somehow, I could use a buddy down here! Let me know if you need anymore info.

    I'm off to get a sleep deprived EEG done at 9am, yet one more test he ordered to check for seizure disorders. I was only allowed to sleep for 4 hrs last night, so I'm looking forward to napping later! Wish me luck....H

    [This Message was Edited on 12/05/2008]
  7. banya

    banya New Member

    First of all, I just wanted to say that you're very lucky to have found a doctor who knows what to look for. Apparently you're in good hands and he's sent you in the right direction.

    I have the same probable diagnosis and understand how you must be feeling. It is very overwhelming and difficult to take it all in. The most helpful thing to do is to join a support group for this disease and learn all you can prior to your appointment. If you go to The United Mitochondrial Disease Foundation website (the link to the adult patient page is ) further down on that page you'll see a section where you can connect with other adult patients. The best link is the one to the mitoldies yahoo group. Also there is a southern California chapter/support group and they would be a great resource for you to contact. If you send them off an email and tell them you're new to this diagnosis, I'm sure they'll be very helpful.

    Good luck to you. I've been to the UCSD mitochondrial and metabolic clinic, and if you have any questions, I'll try to answer them.
  8. tansy

    tansy New Member

    to have found such a caring doctor. I personally found the info Banya has posted here very helpful.

    I am using both the methylation supps and supps to suport the mitochondria; this combo seems to help more than either on it's own. Your supps list looks good so I hope you start to feel the benfits from them soon.

    Good luck and please keep us updated on your progess.

    tc, Tansy
  9. hermitlady

    hermitlady Member

    I'm still trying to recover from the EEG yesterday. I got home and slept 18 hrs straight and I still can't wake up. I slept so solid, I skipped meals and now I'm so shaky and weak...I feel terrible.

    Banya, I'm so glad to hear from you. I'll be picking your brain when I'm feeling better. Thanks for the info.:)

    I gave myself my first B12 shot on Wed., I was so proud of myself cuz it didn't even hurt. I'm still waiting for some of my other supps to be delivered, I sure feel like I need them!

    When my brain clears, I'll be back to reply some more.....thx H
  10. hermitlady

    hermitlady Member

    Just wanted to bump this up to see if Banya and Tansy are around so I can gleen you for more info.
    Banya, Would you mind giving me a summary of your condition, testing, experience w UCSD? I'm very curious to know what happens when you go there. I'm still waiting to see if my referral went thru, it always takes so long for all the paperwork to go thru.

    I checked out the site you suggested and joined the mitoldies group (find it hard to understand their format, kind of confusing for me. Msg board is hard to follow and I keep getting all these emails that I don't understand).


    Tansy, Could you do the same for me by telling me your history and what supps you're taking?
    It would help me so much psychologically to hear from those of you that have dealt w this testing, diag, etc. I just don't know what to expect!

    I have started on all supps prescribed that I listed above, except for the TMG (still waiting on delivery on that one). Pretty much feel like death today...cold, tired and very achy...the story of my life!

    Thanks to all for your continued support. I finally have some hope in my heart, but I know it's a long road ahead. Scary to say the least. From what I've been reading, this diag can be very serious and difficult to treat. I hope I can stick with it and make it thru more Dr visits and testing, it's hard when you're so sick. Oh well, gotta make the best of it.

    Thanx again............

    xxxooo Hermit

    [This Message was Edited on 12/08/2008]
  11. richvank

    richvank New Member

    Hi, Caledonia and the group.

    The so-called mitochondrial diseases, including the mitochondrial myopathies, involve inherited mutations in one or more of the genes that code for proteins in the mitochondria. These mutated genes can be either in the cell nuclear genome, or they can be within the mitochondrial genome, since genes in both locations code for mitochondrial proteins. A mutation, generally speaking, is a more severe inherited change in the DNA than a single nucleotide polymorphism or SNP. Mutations are more rare, occurring in roughly less than 1% of the population, while polymorphisms are more common and less deleterious.

    A mitochondrial dysfunction, on the other hand, is a problem in the operation of the mitochondria that is caused by something other than a mutation in the genes that code for mitochondrial proteins. SNPs in other genes can contribute to the development of mitochondrial dysfunction.

    In CFS we are finding that people generally have mitochondrial dysfunctions, though I wouldn't rule out the possibility of mitochondrial diseases in a small fraction of the CFS population.

    According to my hypothesis for CFS, which seems to be borne out in quite a few cases now, there is a partial block at methionine synthase, and that causes a partial block in the methylation cycle and in the folate metabolism, just as has been found in autism. This partial block is coupled to depletion of glutathione, which removes the protection from vitamin B12 in the body, and that is what keeps the partial block in place and makes CFS chronic.

    There are manifold results of this combination of biochemical problems, including mitochondrial dysfunction. The depletion of glutathione in the mitochondria allows a rise in oxidative stress, and that partially shuts down the Krebs cycle and the respiratory chain. As time goes by, the low glutathione also causes a loss of magnesium from the cells and allows buildup of toxins and infections, and these effects further interfere with the operation of the mitochondria. These effects have been observed in the ATP Profile test that is offered by Acumen lab in the UK, and results from this testing will be reported by Sarah Myhill et al. at the March 2009 meeting of the IACFS/ME in Reno.

    Both carnitine and coenzyme Q10 require methylation for their synthesis, so a partial block in the methylation cycle will cause those to go low, further impacting the mitochondria. It will also cause abnormalities in amino acid levels and many other biochemical parameters that are measured in nonconventional tests, but not usually in conventional medical tests, which have been selected over time to look for other conditions than CFS. If one doesn't look in the right place, one won't find what one is seeking, and that is unfortunately the situation with the routine medical tests that doctors run, in relation to CFS.

    The mitochondria clearly have problems in CFS, but my hypothesis is that this is a downstream effect in the pathogenesis, and it is a mitochondrial dysfunction, rather than a mitochondrial disease, in most people with CFS. If the partial methylation cycle block is lifted, the level of glutathione comes up automatically, and this begins to clear out the problems in the mitochondria.

    This takes considerable time, however, because people with CFS have accumulated large body burdens of toxins as well as infections while their detox and immune systems have been dysfunctional as a result of the methylation partial block, and there are limits to how fast toxins can be excreted from the body into the stools, urine and sweat. When the partial block is corrected, they start clearing these things out, but it is a slow process, and not a lot of fun to go through. I don't know of any way to recover from CFS other than clearing these things out, though.

    I continue to encourage people with CFS to have the Vitamin Diagnostics methylation pathways panel run to see if they have a partial methylation cycle block and glutathione depletion. If they do, I suggest that they consider, together with their doctors, the simplified treatment approach for lifting the methylation cycle block. This is discussed in my post of July 18, 2008. This treatment appears to be helping about two-thirds of the people who are trying it. This treatment addresses the mitochondrial dysfunction by correcting the upstream problem that causes it, in my opinion.

    I've posted contact information for the Vitamin Diagnostics panel and the details of the simplified treatment approach several times, and they should be accessible from the archives.

    Best regards,

  12. hermitlady

    hermitlady Member

    Rich, thank you for posting on this. I have been reading some of your articles and posts here, but I'm still rather overwhelmed by all of this.

    From reading my original post on this thread, could you give me some simple insight and opinions on my test results and treatment plan so far? I know the supps that my Dr has me on now are not exactly the same as the simplified Methyl Protocol, and I wonder if they are going to be helpful.

    I see that you were employed and retired from LLL; Livermore was where I grew up and lived til I was 20. My late father worked there 25+ yrs and retired also, he was an Elect Engr. Small world, Huh? I am now in So CA, but still miss the Bay Area!

    I feel so terrible right now, it's hard for me to understand all of this. I have been told by my doc that I'll have to have a muscle biopsy to diagnose my specific disorder/dysfunction. Does anyone know how that is done? Sounds scary. UCSD is where I have to go to have this type of testing done, and who knows how long it will take to get an appt there.

    I wonder if my problem is indeed genetic or not. I have 2 children w disorders/symptoms within the Autism Spectrum, and I now feel responsible for possibly passing this on to them. Heartbreaking. I should have never had children.

    All my life I have been a low energy type of person, and have never benefitted from exercise (always made me more fatigued, even after diligently working out for 9-10 mos). I now know that I also suffered from depression from an early age, but only started treatment at about 35 yrs old. Just wonder if all of this was always a problem in my biochem makeup.

    Thank you all for your input. I'm trying to understand all of this and am so overwhelmed right now. I appreciate any info that anyone can provide, the simpler, the better. I am so spaced out!

    xxxooo Hermit
  13. banya

    banya New Member

    Rich, can you tell me how the mito specialists here in the U.S. feel about your hypothesis? Are any of them (that you are aware of) open to helping their patients explore the possibility of a methylation cycle block when their DNA tests and biopsies fail to find a mutation for a mitochondrial disease?

  14. banya

    banya New Member

    Hi. I'm not sure where to start, but my original diagnosis was fibromyalgia. The muscle biopsy I had done at UCSD only showed a coQ10 deficiency and some abnormal levels of acetylcarnitines. Obviously I'm having a problem with many of the fatty acid chains -- secondary to "something".

    So, my biopsy left me without a real answer. It may be a primary mitochondrial disease but it's very easy to miss it - even with a biopsy done at one of the specialized centers.

    If it were me, I'd keep pushing for the appointment at UCSD, but work with your current doctor to get the tests Rich is recommending. Just a suggestion. I'm currently trying to sort out which doctor would be best to approach. I don't think my primary care doctor is going to be very open to working with me on this. (proving my problem may be related to a methylation block - vs a primary mitochondrial disease)
    [This Message was Edited on 12/09/2008]
  15. richvank

    richvank New Member

    Hi, banya.

    So far I haven't had much interaction with the mitochondrial specialists. Dr. Myhill and I submitted a paper to their journal, Mitochondrion, which we hoped would reach that commununity, but it was rejected. From some of the reviewer's comments, I suspect that he or she did not believe that CFS is real, as well as having some other issues with the manuscript, some of which I think were valid.

    One hope on the horizon is that Dr. Myhill and collaborators have submitted another paper on their mito work to another journal, and they have also been invited to present their work at the upcoming March 2009 IACFS/ME conference in Reno. I think that if their data gets published and is out there, it could provoke more interest in the mito aspect of CFS. If their paper is published, we will probably try again to get the other one published. It is a review of all the published work that supports mito dysfunction as being involved in CFS.

    My impression is that the mito disease specialists perform certain established test protocols designed to diagnose the known mito diseases, including DNA testing, biopsies, and challenges with certain nutrient loads, followed by blood and urine testing for certain substances. If the test protocols rule the known mito diseases out, these specialists conclude that it isn't a mito disease, and I think that then they refer the patient back to their primary care physician. I have seen papers about mito dysfunction in their journal, though, so maybe this will change with time. The treatments they give for mito diseases are similar to what some cardiologists as well as Dr. Myhill and others are giving to support the mitochondria, including things like coenzyme Q-10, carnitine, magnesium, lipoic acid, B vitamins, and D-ribose. These are nutrients that are specifically needed by the mitochondria. In CFS, several of them are often found to be low. I believe that these low levels stem from the core issue in the biochemistry of CFS, which I believe to be glutathione depletion coupled with a partial block in the methylation cycle. While giving these supplements can help to some degree, I think that the way to really help the mitochondria is to address the partial methylation cycle block.

    Best regards,

  16. richvank

    richvank New Member

    Hi, hermitlady.

    Wow, it really is a small world! It's possible that I met your father, since I did work with some EEs at the lab, but it is also a big place, and I certainly didn't know everyone who worked there!

    Since I'm a researcher, not a licensed physician, I can't give individual treatment advice unless a physician is directly involved to review my suggestions.

    I don't know all the details of your test results, so I can't say whether I think it is likely that you have an actual mitochondrial disease, but it sounds as though your doctor is knowledgeable about treating partial methylation cycle blocks, which I believe are responsible for mito dysfunction in many cases of CFS. The treatments you listed look very much like what people in the DAN! (Defeat Autism Now!) project recommend. I think these treatments in general will have an impact on a partial methylation cycle block. The simplified treatment approach that I have suggested is based on the work of Dr. Amy Yasko, but much of the basis for her work is the same as the basis for the DAN! recommendations, though there are a few differences. I originally started suggesting DAN! treatments for CFS in 2005, but moved on the the Yasko approach, and then to a simplified version of it as time went on. But I would not say that the simplified treatment approach is proven to be the optimum way to go. It's where I am now, but I'm continuing to study to see if it can be improved. In the meantime, it seems to be helping quite a few people with CFS. If you read my post of July 18, 2007, you will see the history of this. I realize that biochemistry is pretty techical stuff to read, but I think that post is more readable than some of my others! :)-)

    In general, I favor use of hydroxocobalamin rather than methylcobalamin if there is a good possibility that there could be inorganic mercury in the body, such as from long exposure to amalgam fillings in the teeth. This is normally not an issue for autistic children, because their mercury has usually come from vaccinations, which have contained thimerasol, which contains an organic form of mercury, ethylmercury. That type has already had a chance to enter their brains. My concern about methylcobalamin in people who might have a lot of inorganic mercury in their bodies is that methylcobalamin is known to be able to methylate mercury to form methylmercury. This form is able to cross the blood-brain barrier and enter the brain, where it is a neurotoxin. I don't have solid proof that this is a problem, but there have been a couple of cases in which fairly large doses of IV methylcobalamin were received by women who had known mercury body burdens, and they experienced neurological symptoms shortly afterward, and the effects lasted quite a while. So I maintain that position to be on the cautious side. There are other people with CFS who seem to do fine with methylcobalamin. I think the DAN! project suggests giving it subcutaneously, and that might make a difference, because it enters the blood more slowly that way.

    I hope you experience improvement from the treatment you are getting, and also that the UCSD people will be able to figure out whether you do indeed have a mito disease. The fact that some of your issues appear to be lifelong suggests that they may find something in the mito disease category. As you may know, CFS is defined as being an "acquired" syndrome, not a lifelong disease.

    Best regards,

    [This Message was Edited on 12/11/2008]
  17. rachelle01

    rachelle01 New Member

    I have alot of those same issues, but also have Lupus and Sjogrens docs say the mito and autoimmune go together (autism is autoimmune?)..have you seen a rheumatologist to rule out autoimmune as well?
    There is a prescription Carnitine which is called Levocarntine that is supposed to be better, more absorbtion I might want to ask about that.
  18. xchocoholic

    xchocoholic New Member


    I looked at your profile and noticed that your kids have problems. If you're not gluten free caseine free, IMHO, you and your kids should be... There are plenty of autistic kids who are going into remission on the GFCF / DAN protocal.

    I've been trying to heal myself for 3 years now and have made significant progress via diet alone. Eliminating my food intolerances made a huge difference. I reduced my oxalates too, but I'm not as clear on how eliminating oxalates has helped. These have been linked to fibro, MITOCHONDRIA damage, kidney stones and vulvodynia. Look at how toxins affect mitochondria too.

    Many autistic kids have problems with oxalates and toxins too. There are msg boards dedicated to parents of autistic kids who are trying these methods. I think you'd be surprised how well you fit in ...

    The biggest problem I have left is exercise intolerance which I'm looking into. I'm in PT and I'm improving so it could just be a matter of time too. I'm very deconditioned after being mostly housebound and forced to use a motorized cart for 16 and 1/2 years.

    I was going to suggest adding salt (Himalayan) and alkaline water to your regime. I've found both of these have helped my energy levels. The salt keeps my stamina up and the alkaline water has changed my PEM from lasting 2 - 3 days to 1 day. And it's not nearly as bad as it was.

    I'm thinking all this really boils down to is the fact that I was low on these minerals. So you may be low on these or others. If you have OI though, try the salt ... If you have PEM, try drinking alkaline water while you are active just not with food, meds or supplements.

    Also, I just tested positive for low chromium which our bodies need to regulate blood glucose and high on Lp-PLA2 which indicates a metobolic problem. I'm currently supplementing with chromium. I haven't researched Lp-PLA2 yet. I was told that it was probably genetic and I can't ever handle a lot of carbs.

    I'm not up on the supplements you're taking ...

    HTH ... Marcia

    PS. My glutathione is good now too. I shudder to think was these tests would've shown all those years before I knew about diet. [This Message was Edited on 12/12/2008]