Choline on the Brain? A Guide to Choline in Chronic Fatigue Syndrome
http://phoenixrising.me/research-2/the-brain-in-chronic-fatigue-syndrome-mecfs/choline-on-the-brain-a-guide-to-choline-in-chronic-fatigue-syndrome-by-cort-johnson-aug-2005
Discuss the article on the Forums.

Promethease--homozygous for AMPD1. I need D-ribose?

Discussion in 'Genetic Testing and SNPs' started by Crash Davis, Apr 24, 2018.

  1. Crash Davis

    Crash Davis

    Messages:
    53
    Likes:
    61
    "
    rs17602729(T;T)
    AMPD1 deficiency homozygous This is found in ~2% of all caucasians. The majority of people with the AMPD gene are asymptomatic, but in response to vigorous exercise, others have symptoms including early fatigue, muscle pain and muscle cramping.
    http://en.wikipedia.org/wiki/Adenosine_Monophosphate_Deaminase_Deficiency_type_1
    http://rarediseases.info.nih.gov/GA...ine_monophosphate_deaminase_1_deficiency.aspx
    http://www.ncbi.nlm.nih.gov/clinvar/RCV000019933.1/
    http://evidence.personalgenomes.org/AMPD1-Q12X "
     
  2. nanonug

    nanonug Senior Member

    Messages:
    1,664
    Likes:
    1,128
    Virginia, USA
    Murph likes this.
  3. voner

    voner Senior Member

    Messages:
    572
    Likes:
    917
    I have this deficiency also. I also suffer from its major symptom, "muscle pain upon exertion". I have consulted with a neurologist with experience in treating patients with this deficiency and I've also have consulted with a geneticist who's very knowledgeable about this subject and they both discount the possibility of this deficiency being responsible for my symptoms. I read most of literature and I encourage you to do that. I'd be interesting to hear what you dig up.

    I have never had someone explain how much exertion is required for the AMPD cycle to be invoked...
     
  4. Crash Davis

    Crash Davis

    Messages:
    53
    Likes:
    61
    No. I'm beginning to learn that this things a whole bunch of dominoes that have fall just right. It makes sense though to support all of your separate conditions to hope to get right again. Screw doctors. If they aren't willing to help support one condition that might not be THE CAUSE but might at least be a contributor, then I've got no use for them, I'll handle things myself.
    I've just finished having to wrap my head around the homozygous 677 SNP and the fact that my rate limiting enzyme in a major pathway has only been cranking along at 30 percent my whole life....did this SNP cause problems by itself in isolation? NO. But when you add this one thing + this other thing + this thingy + that thingy it is easy to see how our bodies and brains can't get right. I think of a truck stuck in the mud with its wheels just spinning and going nowhere.


    I don't think any one problem got any of us where we are. It was a perfect storm. Until doctors quit thinking of simple cause/effect/cure we aren't going to get anywhere.

    It's been a really long time since anything was ever simple in medicine. No cures. Just treatments. I'm not going to sit around waiting for the eventual Alzheimers to set in for somebody to figure out a cure. There is no one cure and there never will be. Its going to be about fixing a bunch of individual things that all contribute to the bigger thing and then maintaining them, IMO.
     
    wigglethemouse and Paralee like this.
  5. Eiren

    Eiren

    Messages:
    52
    Likes:
    35
    I'm C;T. Promethease says that is 20% prevalence.

    Before getting chronically ill, I was always quite active. Well, I wanted to be active. I liked doing hikes and biking and did some running and so on. But...yeah, I always seemed to tire quickly. No matter how much I did, I just didn't have as much "gas" as others. And if I did a whole lot, yeah, total exhaustion.

    But now it's like all that, except cranked to 11. Before I felt tired doing extra recreational things, now I feel tired doing normal everyday things. I suspect this gene is playing a role, but it's not the whole picture. The whole genome hasn't been studied yet, so, I think probably this, plus something, plus infection or whatever, causes issues in some of us.

    I haven't tried d-ribose, and I'm also wondering if it's worth experimenting with.
     
  6. Crash Davis

    Crash Davis

    Messages:
    53
    Likes:
    61

    I picked some up today but I'm not expecting miracles. But you never know. I mean, people want to bring up that most people with AMPD1 don't have symptoms. Well, most people don't get headaches by smelling a perfume or 2 day hangovers from drinking a beer either LOL. Our group of people seem to have increased susceptibility to just about anything.....what is funny is that the ONE thing that I am very good and not susceptible to at is not getting "sick"...like actual sick. I've only had one cold/flu since 2003, which is when my journey began with a cold/flu-like illness.
     
  7. aquariusgirl

    aquariusgirl Senior Member

    Messages:
    1,593
    Likes:
    575
    Susan Costen Owens ...the sulphur /oxalate researcher is looking into this and has a dedicated facebook group....you can find her in the first place at Trying Low Oxalates...on facebook


    Off topic: This is again a bulletin to let you know that one in about fifty of us has Myoadenylate deaminase deficiency -- AMPD1 rs17602729-AA, rs35859650 -AA, rs398123114 deletion
    and our group for this I set up has ten people now and it is astonishing what they have in common. If you are dealing with any muscle issues, hematological issues, sleep issues and have done 23 and me or other ancestry services, please look up these snps and PM me definitely if you are homozygous, but if you heterozygous and have severe symptoms in these areas. I think oxalate may be a special issue for folks with these genetics, but I cannot know if we don't get more people. Please, if you have a friend with hematological issues (especially bleeding, bruising issues) and weird problems with sleep, or muscle pain and muscle fatigue issues, look it up.
     
    Retsef and Crash Davis like this.
  8. Crash Davis

    Crash Davis

    Messages:
    53
    Likes:
    61
    Thanks. I put in my application....
     
  9. Retsef

    Retsef

    Messages:
    3
    Likes:
    5
    I just found this website and your post but I don't see how to send PMs. Maybe because I just joined?
     
  10. Crash Davis

    Crash Davis

    Messages:
    53
    Likes:
    61
    [QUOTE="[Please, if you have a friend with hematological issues (especially bleeding, bruising issues) and weird problems with sleep, or muscle pain and muscle fatigue issues, look it up.QUOTE]

    I've had so many other SNPs on my plate to learn and address that I haven't been able to get back to this one.
    The above users post triggered an email reminder to me about it....I've been dealing with serious methylation crap, 677t, mtrr, fast COMT, taq1a.....methyl,methyl,methyl I figured out lol. Then it was on to APOE 4, which I'm working on and now I've found the HLAB27 buried in Promethease which was missed by a lab 11 years ago that might have altered a, few outcomes.... but then again could have killed me if they'd treated me with an antifolate like methotrexate. This DNA raw data has been invaluable in my helping myself and now I have a doctor on board with me even if it is my psych...after I showed him the mechanism by which homomcysteine triggers apoptosis via allosteric NMDAr modulation....at that point his ears perked up and he look at the rest of the studies I'd brought....

    ok that got off subject, but months ago I think I missed the part about "bruising issues". LOL, I used to be a football player in high school and it was the weirdest thing....just from the usual grabbing and pulling of arms that occur during a game come Monday morning, my biceps on both arms would be all colors of the rainbow to the point that I wore special padding there by my senior year. These "grabs" were nothing extraordinary that caused the bruising and the bruising was 100 percent painless....just yellow, green, orange, red, purple depending on which day of recovery, which takes about 7 days. I still have this to this day. ..just not as much activity to cause such things.

    no abnormal bleeding times, as I work in a lab and frequently collect my own blood and can also do a few very basic clotting assays which have always been normal.

    interested in others experiences with this. when I looked at the FB group I didn't see much info and group did not appear very active and, as I said have been very busy addressing these other issues, which I think I'm finally getting enough of a handle on (aside from scheduling a trip to a GI doc since the news of the HLAB7....already have inflammatory skin hyperplasia issues, a bit of uveitis, reactive arthritis and IBS issues off and on for ages that has finally become I guess chronic. sigh.

    EDIT: quote fail but I don't care. on mobile. not gonna fix. :/
     

See more popular forum discussions.

Share This Page