A New Decade of ME Research: The 11th Invest in ME International ME Conference 2016
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BH4 and the Genetics of ME/CFS

Discussion in 'Genetic Testing and SNPs' started by Mimi, Jan 23, 2015.

  1. Ema

    Ema Senior Member

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    The weird thing is that drugs are used off label
    all the time but Kuvan is near next to impossible to get. I got a prescription and the rep told my doctor that she couldn't prescribe it for BH4 deficiency. That's a labeled use in the EU just not here due to the orphan status. It made my doctor so leery that she took the script back. And it used to be available at every compounding pharmacy. It's not like it is particularly dangerous or anything.
     
  2. Hip

    Hip Senior Member

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    I am not sure of the price of BH4 before it became an orphan drug, but I know that the Ecological Formulas brand of BH4 supplement currently costs $60 for 2.5 mg x 60 capsules, and that works out to $40 per 100 mg, which is the same as Kuvan, which is $40 for each 100 mg capsule.

    So the supplement version of BH4 appears to be the same price as the pharmaceutical version.

    And the BH4 supplied by Schircks Laboratories works out to $40 per 100 mg as well, according to this post.



    I can see how orphan drug status might potentially be abused, but the idea is that orphan drug status only applies to rare diseases or conditions, so it's not clear to me how pharmaceutical companies could get around those rules.
     
  3. TheChosenOne

    TheChosenOne Senior Member

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    If I'm correct, it's still not clear which SNPs are actually bad?
     
  4. nandixon

    nandixon Senior Member

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  5. TheChosenOne

    TheChosenOne Senior Member

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    I have
    rs10483639++
    rs3783641+-
    rs8007267+-
    Is that bad?
     
  6. nandixon

    nandixon Senior Member

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    I don't think it's possible for anyone to say much beyond what I mentioned in the post I linked to.
     
  7. freakzilla154l

    freakzilla154l

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    Can someone please tell me if organix acid test (OAT TEST) can tell you if you have methylation issues? And can someone here look at my oat test because it says I'm low in vit c, coenzyme 10, and vit b2 (riboflavin). Does this mean anything? Also, I have very high serotonin and gut issues too. If anyone can look please help me and I'll post it or send to you, thanks!! I'm alittle lost....
     
  8. freakzilla154l

    freakzilla154l

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    Bump! Please any help or direction?
     
  9. Ema

    Ema Senior Member

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    You might get more replies if you start a new thread for this topic alone.
     
  10. freakzilla154l

    freakzilla154l

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    Ok thank you!
     
  11. heyitisjustin

    heyitisjustin Senior Member

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    Do you still have the Kuvan? I would like to try BH4 but it is quite expensive.
     
    kel88 likes this.
  12. kel88

    kel88 Senior Member

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    Hi Justin,

    Yes i have!
    If you have intereting you can send me a PM! :)
    I couldnt take it because of to many side effects :(
     
  13. kyzcreig

    kyzcreig Senior Member

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    Houston
    Hi Justin,

    I've sourced BH4 for my personal use and am now selling it here:
    http://kigeliashop.com/product/pteridin-4-bh4-research-powder

    The powder is sourced from a Swiss lab that used to manufacture tablets themselves before BioMarin drove them out of that business. I used their tablets in the past and know of no higher quality manufacturer.
     
  14. marcoz

    marcoz

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    Old thread, I know, but there's anecdotal evidence that hydroxocobalamin may be superior to methylcobalamin for increasing BH4 for some people.

    It's discussed on a few posts on this longecity thread, but the idea is that active methylB12 pushes folate towards the methylation pathway instead of BH4 production (apparently a Rich Van Konynenburg theory), so if BH4 is your main issue then an unmethylated form of B12 may be better to ensure folate is available for BH4.

    I appreciate not everyone can ditch methylB12, but personally, I've found switching to hydroxocobalamin helped me regain about 80% of the benefits I experienced during the folate startup honeymoon (that I lost after a week or two), and I'm fairly certain that it's related to BH4 production.

    Just wanted to share in case anyone's in the same boat.
     
    shoponl and Chocolove like this.
  15. kyzcreig

    kyzcreig Senior Member

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    Houston
    Both BH4 and hydroxocobalamin are potent nitrogen species scavengers e.g. ONOO- and NO, if you are familiar with Martin Pall's work. Inflammatory cytokines can cause excessive NO production. I would wonder how you do on anti-inflammatories like Cinnamon, Curcumin, Boswelia.
     
  16. keenly

    keenly Senior Member

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  17. keenly

    keenly Senior Member

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    I do not believe NO is the issue per say. If one has low BH4 they will produce peroxynitrite. I believe this is the issue in chronic disease.
     
  18. Nikorah

    Nikorah

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    Hi Mimi,
    I have gs224 (gch1) and supposedly a variant for PKU according to Promethease.
    I am also homozygous for:
    SOD 2 , CBS C699T, COMT v, COMT h, NOS 3, MTHFD1, SLC19A1
    Hetero for many Snps but will only list a few:
    SOD 3, VDR BSM, VDR TAQ, NOS 2, MTHFR C677T, MTHFS, MTRR, AGT, AHCY, BHMT, CBS, DAO, FOLR2, FUT2, GAD1, GAMT, MAOB, PEMT,

    I am very interested to find out where you got your bh4? Was it from a doctor? Did they give you any tests first and what were the names of the test?
    I have not shown signs of Distonia but I have crushing fatigue, muscle jerks and feel like all my neurotransmitters are extremely low. I have many different symptoms with nothing showing up on traditional tests but I can hardly get out of bed. I started to see a ND but she doesn’t think much about the GCH1 mutations causing low bh4 (perhaps because she just doesn’t know enough about it). Not sure what tests I need to prove to my doctor that I need supplementation. Any advice? Thank you.
     
  19. knackers323

    knackers323 Senior Member

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    Anyone been helped much by bh4?
     

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