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23andme can someone please help me?? :(

Discussion in 'Genetic Testing and SNPs' started by kel88, Jan 9, 2015.

  1. kel88

    kel88 Senior Member

    Hi everyone,

    I am from the Netherlands so I hope my English is readable.
    I'm under treatment at a colleague of DR de meirleir, they work together.

    Unfortunately in our country there are no doctors present who understand methylation, so I'm unfortunately on all by myself to find out.

    I have just had the results back from 23andme but find it hard to understand.

    My English is all horribly bad let alone in medical terms.

    Is there Someone that please please please could help my?
    I got CVS but my symptoms looks like MS/Parkinson.

    First I'll share my info received:

    MTHFR A1298C homozygoot
    MTHFR 03 P39P Hetrozygoot
    MTRR A66G homozygoot
    MTRR A664A hetrozygoot
    VDR Taq homozygoot
    MAO-A R297R hetrozygoot
    BHMT-08 homozygoot
    CBS A360A homozygoot
    AHCY 01 homozygoot
    AHCY-19 homozygoot.

    I think iTS a hard combination and dont no what to do.
    I did good om P5P supplement because i got pyrroluri, but now i get neuropathische pain because of the P5P. I dont now how this is possible because its the active form, but iT is...

    I also have a depression , could i use SAM-E with this combination of SPN's? Or beter try St johns wort?

    What I understand is that I have a low BH4 levels have with these mutations which makes for low neurotransmitters? I have to use B12 and 5- methylfolate, ? How much do i have to take?

    Do i have to thake THE supplement BIOPTERIN to boost BH4??

    And THE MAO-A R287R is this caused low Serotonin?
    THE CBS is this also cased low BH4?

    And THE AHCY is a difficult combination because of that you should think Im overmethylated but THE other results looks like Im undermethylated right?

    Is there Someone who could please please please help me?
    Im so very ill and depressed and dont know where to start!! :(

    Thans for Reading !

    Dear greetings Kel
  2. Valentijn

    Valentijn Senior Member

    Hoi, @kel88. Leuk om je te ontmoeten :) Ik woon in Nederland, maar mijn nederlands is wel slecter dan jouw engels :D

    MTRR A66G +/+ means that you recycle B12 at about 30% of the normal rate. So B12 supplementation can help. Bloem makes a nice form of it (hydroxoB12, sublingual, and high dose) locally, in their "Recovery Power B12". It can be ordered from them directly, or at We also had it at our local De Tuinen winkel, but not anymore I think.

    MTHFR A1298C hasn't been shown to cause problems by itself. But it does make other MTHFR mutations much worse, if you have any. A list of other MTHFR mutations tested by 23andMe (V3 chip) is at . The missense mutations are the ones to usually cause problems.

    I also have a small download at which can pull out your very rare SNP results. Sometimes there is something interesting there to investigate more.

    Those CBS, BHMT, VDR, and AHCY SNPs have little impact. And the MAOA SNP listed shouldn't be doing much either, especially when heterozygous.
    kel88 and Critterina like this.
  3. Critterina

    Critterina Senior Member

    Arizona, USA
    Hi @kel88 ,

    We have some similar SNPs. I don't have ME/CFS, though. Still, I'm happy to share what's what with me.

    The P5P, even though it's active, still appears to cause neuropathy when the dose is too high. Some people are very sensitive. You may need to stop it for a while; hopefully your neuropathy will diminish. If you need it, like I do, you'll need to balance the benefits and the toxicity. Maybe your doctor can help you.

    I tolerate 50-100 mg; the literature reports that 100 mg is usually not toxic; people on this forum say that much lower doses can be toxic for them

    Also note that neuropathy can be caused by low B12 and by some drugs. B12 is sometimes available by injection, and that helps some people with neuropathy. Drugs are another matter. If, for example, you use insulin for diabetes, there are injection pens that don't need refrigeration that have neuropathy associated with them in the > 1 in 10,000 but <1 in 1,000 range. Doctors who prescribe this don't always know about it. Using multiple products only increases your exposure.

    I have my own reasons not to use St. John's Wort - a history of auto-immunity that contraindicated it. So, I can't speak to that. You COULD use SAMe; at least you could try it. But there are other things to consider, too. Once your methylation is going well, you will probably be making more SAMe.

    For me, I had an amino acid panel done that showed that after I started methylation supplements I became very low on tryptophan. Tryptophan is an "essential amino acid" something your body can't make; you need to get it in your diet. It is the precursor to serotonin, which is often lacking in depression. I supplemented with tryptophan and still do. I needed quite a bit, but I only learned that from lab tests.

    However, about supplementing with tryptophan (a possibility, I'm not recommending it without labs showing you're low): Tryptophan conversion to serotonin uses BH4. If you want to spare BH4, the more expensive 5-HTP can be used.

    I supplement with low doses of Lithium Orotate, available over the counter or by mail order.

    The best advice for how much to take is probably in @caledonia 's signature block entitled "Start Low and Go Slow" so you just add a little at a time to see what helps. Unless, of course, your doctor is going to agree to go along with the B12 injections.

    Yes, B12 good with your SNPs. When you take it, you will be using more methylfolate. This is something you should be aware of. Personally, I can take a whole lot of B12 with no ill effects. Others are very sensitive.

    There are some different opinions about whether methylfolate is advantageous when you have the MTHFR A1298C hetero. But, like you, I am hetero and I have a history of melacholy and depression. I was told by my health care practitioner to take 1 mg. I've been around the thought process, and I decided to keep taking it. I think it helps me.

    There is also controversy, if it helps, how it helps. Some people think it helps activate BH2 to BH4, some think it spares BH4 but doesn't actually create it. That doesn't really matter, does it, when you're just figuring out what works for you.

    No, the other things that you do to help methylation will help increase your biopterin, so you don't HAVE to take it. Later on you might try it, but don't start there.

    I believe the MAO-A actually slows the breakdown of serotonin, so you should have more, not less. It's in your favor. I don't know about the CBS and it's effect on BH4. BH4 has many jobs in the body.

    kel88 and Gondwanaland like this.
  4. Hi Kel,
    Heartfixer says "BH4 deficiency is the consequence of CBS, BHMT, and the “backward” MTHFR A1298C defects." You have all of those, although your CBS A360A is more of a minor SNP. So that would explain why you would be low in BH4.

    Heartfixer/Yasko say to get the rest of the methylation cycle balanced first, then try BH4. Same thing with 5htp for MAO A. MAO A is an upregulation.

    AHCY should become balanced as you balance the rest of they methylation cycle. So basically you don't need to worry about it.

    You should also get the NutrEval test if possible to see what's going on functionally in your body. There is a European version. You might have aluminum or other metals to detox.

    You can try reading the first four links in my signature starting with the Methylation Made Easy videos. The SNPs Interpretation Guide will tell you a lot more about your SNPs.

    I also have a link to find a practitioner. There are several who will do phone or Skype consultations even for European patients.
    kel88 and Gondwanaland like this.
  5. kel88

    kel88 Senior Member

    Valentijn thanks for youre post! Youre from the netherlands also? Where do you live? Im from brabant! ;)
    Nice to hear that there is someone from holland also with deling this problems! Do you come from Amerika from orregin?
    But uhhh youre post, haha i doenst understand! Its difficult enough with this mutations let alone with more... Hihihi
    Do you know a docter in out country that can helps?
    And do you also have cvs/me?

    Critterina thank you very much for youre explanation!
    In using 35mg P5P and that will cause me neurophatic pain! Also when im eating Rice of liver products i got so much pain! Weird right! Wil it be because you use BH4 to get from tyrose and B6 to produce dopamin, tryptofan and b6 is serotonin... My body doenst get enough BH4 so i dont use the B6/P5P, is that possible?

    I already took B12 injections 2 a week hydroxo and methyl 10mg. And everyday 10mg methyl subligunal? I dont know how to write im sorry! Hihi

    And i use 1mg metylfolate from thorne is that ok?

    But can i use sam-e you think of better TMG? In so depressed that i would love something that helps me quick with my mood! Ik became a mom 11 weeks ago with IVF after years .. But noe im almost unaible to enjoy it :(

    Caledonia thank you very very much for youre information that really helps! Do you know a doc that can give me some advise / consult by mail ? My Englisch is to bad for a telephone call than i really doesnt understand enything about it! Haha...
    So reading is more easyer because i can look on google whats the words are in my language ...

    But hou think also my problem is low B4?
    I also think that! In already using D3 for VDR +
    In also on b12 hydro en and methyl ..
    And. 1 mg active folate.

    Im using w multi from thorne vitamin C omea fatty magnesium taurine NAC inositol zinc probiotic carnitine astaxanthin

    So what can i do more...

    Do you know where to get BH4 ? I saw that i have to get it cold... But how do i do that when i live in Netherlands?than its already hot when its here...
    Mayb when i can get Kuvan whit a recept ( i will try at my doc but i does not think that thats is going to succeed...) :(
    Hoe much BH4 csn i take? I saw people with PKU taking 100 mg ( Kuvan) but hoe much do i need you think?

    And do you also think thats my biggest problem? When i took BH4 than i have the problem solved?

    And the latest question so far. ( im sorry but in a newby)
    What do i can take quick for my depression? TMG SAMe or sint johns wort?? I think because of the MAO-A i cant handle AD /SSRI"s right?

    You guys thanks a lot! I so apericiated that you guys will help me!! Really i love you guys! Im so despered and do know where to go!

    Dear greetings kel

    Sorry again for my Englisch i hope you guys can read it.
  6. Valentijn

    Valentijn Senior Member

    I live in Amersfoort, for about 4.5 years now. I got ME 4 years ago, shortly after moving here from the US. I don't know of any good doctors in the Netherlands. And I'm afraid that everything I know about Brabant I learned from watching New Kids :wide-eyed:

    Ik denk dat B12 is voor jou nodig, maar niet foliumzuur, als je geen andere MTHFR mutatie heeft. Er zijn meer 23andMe mutaties op Je kun zoek op jouw 23andMe resultaten om die te zien.

    Jouw MAOA, BHMT, AHCY, CBS, en VDR resultaten maken niet uit, volgens de wetenschappelijk onderzoek. Zo ze hebben geen behandeling nodig. Alleen heft de MTRR behandeling nodig, volgens jouw resultaten boven.

    Maar ook is er mischien meer informatie met het kleine programma op . Soms vinden mensen daar zeldzame resultaten dat zijn ook belangrik mutaties.

    Apologies for my grammar :D
  7. kel88

    kel88 Senior Member

    Hi valentijn!

    Leuk dat je je bericht in het Nederlands plaatst! I like it :D

    Only youre information is not the same as from the internet!
    There sows that i have to take metafolin for A1298C and 03 P39P

    For my 2 MTRR mutations i need a high dose of methyl B12 right?

    VDR Taq beem some high dose D3 right?

    My MAO A is a problem when i deside to take anti depressant right?

    My CBS is a problem with sulfates or something? And high levels of taurine? The weird thing is, i alway use taurine everyday for my ( gewrichtspijn ) dont know the word in Englisch... Muscles..

    And Cataloina does said that my BHMT cost some low biopterin/BH4 and that should be my wordt problem she said? Isnt that correct than?

    What a difficult puzzle! Wl the sites tell me something else is such a hard thing to understsnd pfff dont like it ...haha

    But uhhh tell me... Why moving to holland? Its cold here haha... We always said that we will go move to Amerika hihi!
    How old are you? And youre from amersfoort?
    I was with old en new in NIJKERK thats near by Amersfoort !
    Do you know Roy Donders ? Hes from Tilburg .. I was born there and live nearby now hihi...
    And do you think you did become sick because of stress or something from moving? I became sick after s lot of stress on ny work.. Do you also work here in Netherland?

    Leuk dat jij als nederlander ook hier op het forum zit hihi
    Praat makkelijker in mijn eigen taal :)

    Liefs kel
  8. liverock

    liverock Senior Member

    Hi kel88

    Im not quite sure from your post whether you are being treated by your doctor for pyroluria or you are self medicating.

    I can understand about high dosage of P5P, but pyroluria is also normally treated by doctors with high dosages of zinc, vitamin C and B3 niacinamide, as well as P5P
    They also regularly monitor for symptoms as pyroluria is a disorder that needs treating for life and getting the dosage right needs regular monitoring.

    If the dosages are not right you can get high copper levels. which can cause anxiety, depression and other mood disorders. I think it might be better to check with the doctor to make sure the pyroluria is being kept under control before attempting methylation.
    Last edited: Jan 13, 2015
  9. Valentijn

    Valentijn Senior Member

    I read the actual research. Whereas many others just repeat misinformation created by Yasko.
    No, those don't have much or any impact by themselves.
    Just for MTRR A66G. And it might just need a normal amount to compensate for MTRR, but a high dose might help with other problems. A high dose reduces pain for me.
    No, VDR Taq has little or no impact. But it's good to supplement D3 anyhow, especially for sick people who don't get much sun. And it can be good for everyone during the winter, especially so far north as we are in the Netherlands.
    Maybe, or maybe not. Production and break down of neurotransmitters is usually nicely balanced in people. And I'm -/- for MAOA, yet SSRIs make me feel much worse physically. So I don't think MAOA is a big factor.
    Joint pain? Niet spierenpijn? Your CBS +/+ has no impact at all. More bad information from Yasko, helaas.
    BHMT-08 has little impact, and +/+ is the better version anyhow. Caledonia tends to repeat data from Yasko and other sources without reading the actual published research. But the treatment might still be helpful for some other reason.
    Yes, that's why I don't trust any of them and I read the research myself.
    My fiance is Dutch, and the weather is about the same as back in Seattle where I come from. I'm in my 30's. I got sick after a nasty virus in January 2011 - I was having fun with the free language classes at Utrecht Universiteit, and no stress.

    I'm far too sick to work - it's a good day if I can manage to make a very simple dinner, and even taking a shower is very difficult. I have to sleep in the living room because going upstairs is enough to make me much sicker for a while.

    We were back in the US for New Year's Eve, so missed out on all of the explosions, luckily! I haven't been to Nijkerk, though my fiance did get his degree there.

    I don't know Roy Donders, or many other people - I don't get out much! Though I think I have briefly chatted with some other Dutch ME patients. We do have a few here, such as @Mij. They speak much better Dutch than me, and their English is usually just as good as mine too :p
  10. kel88

    kel88 Senior Member

    @liverock thsnks for youre post! No i do selfmedication.
    In oure country they dont know anything about pyroluria! The only docter that does now anything about it they call him a layer ( dont know the word in englisch sorry..) they dont think its a resl disease! Just like me/cvs! They think we are creasy not really ill ...

    But i also take all the supplements as in youre post! I took depyrrol also ( look at the internet, its special for people with Pyroluria.)

    Do you also have pyroluria? Kan you handle high amaouts of P5P?

    Valentijn, ohh does have yasko it all wrong by her posts ? Oh thats why everyone does tell everthing else! I think they also dont know what a impact it all have :(
    What do you all tske for youre mutations? I understsnd that it doesnt help you? Cause youre to ill to do something?
    What a bad thing that youre here in the Netherlands and are so so sick :( what mutations do you have?
    Im to sick to work also but i have to... I was sick for a year and have to try it agwin this friday! Pffff its so hard :(
    But a life with only on bed i doenst want that :(
    How do you get youre B12 injections in Netherland? And do you tske some supplements as well?

    Im 26 my husband 30. Lucky enough he is reslly healthy!
    Do you have kids? And dont you miss youre familie?
    And hahaha roy donders is coming on the television its a celeb ;) sort of... Hihi

    What do you advise my just as you look at my SNP"s...

    Can i take t Johns wort or SAMe or TMG for depression you think?

    I would like to try BIopterin but dont know where i find it and buy it and can deliver it cold to the Netherlands... :(

    Greetings kel :)
  11. Mij

    Mij Senior Member

  12. Valentijn

    Valentijn Senior Member

    Whoops :rofl:
  13. liverock

    liverock Senior Member


    If you have trouble handling 35mg of P5P then I dont think its likely you have pyrolura, or if you have then it will probably be at a low level.
    Pyroluri causes very large losses of both zinc and P5P in the urine daily, and the problem is usually too low a dose of P5P .

    This is a Dutch website on pyroluria where you can do a questionnaire to asess whether you probably have pyroluria and if so, order a test that can be done at home and then sent to their laboratory. I think you should get it done before doing any methylation to prove that you are clear of pyroluria, or get a recommended dosage from the laboratory if you are positive.
    Last edited: Jan 15, 2015
  14. kel88

    kel88 Senior Member

    @liverock thanks for youre comment! I did the test there af KEAC by Dr Kameteeg ;) my value was 2,7 and i already took B6 ... I always did good to P5P, but now i develop neuropatic pain! There are very little people who have the same as me with P5P the think of low alkaline phospatase or at amy yasko i read something about it ... I dont know why ... But it sucks! I feel so misseabsle!

    @all do anybody know why the site heartfixer isnt working anymore?
  15. liverock

    liverock Senior Member


    I'm not clear from what you are saying whether you took the test in the past and it was 2.7mmol/l. or that you took it this week and it was 2.7mmol/l ?

    Also how many of these depyyrol pills do you take per day in the past/present, and how long have you been taking them?

    What other vitamin/mineral/ prescription drugs are you taking?

    Im asking because there are other possible reasons for neuropathy from depyrrol besides P5P.
    Last edited: Jan 16, 2015
  16. kel88

    kel88 Senior Member

    I did the test years ago.
    I always took 1 pill 25mg P5P.
    But when i become pregnant i did took 2 pils 50mg P5P.
    Now when im taking a pill with P5P i get tingling and pain in foot and back and legs and my muscles are twiching :( there are more people sensitive for P5P. It can be because of low alkalische phosphatase but there are also reasons because of sulfite i read on amy yasko. I hate it, because i cant life without P5P :(
  17. kel88

    kel88 Senior Member

    @Valentijn where are the other Dutch people then? Hihihi
  18. liverock

    liverock Senior Member

    First of all is the baby alright and healthy?

    Did your doctor know you were taking 2 Depyrrol pills throughout your pregnancy?

    Once you answer I can give you possible reasons for your problem and its not just P5P.
  19. kel88

    kel88 Senior Member

    I hope she is healthy but i really dont know for sure...
    I did the 23andme test because im very ill. But now it seemt
    That austisme also have metylation mutations!
    The problem is, my husbands sister is autistic, and my husband al little bit also i think... So he would have methylation problems also ! Ive got 12 mutations and 7 are homozygoot. So my daugter gets my bad genes .. I become more and more sick when i think about it! Dont know my husbands genes.. I hope he give her the good ones! My husband is very healthy he is never going to a doctor thats a good sign right?

    I have problems with sulfur ... I react badly to everything with sulfur! ( homo CBE mutation). So thats why i react on B6. I read a lots of comments.

    This one is one of them
  20. liverock

    liverock Senior Member


    Hi Kel
    I think you are causing yourself unnecessary anxiety by worrying about genetic mutations, both for yourself and the baby. Have you been to the doctor about your Parkinsons and MS symptoms.?
    Was he supervising throughout the pregnancy your Depyrrrol supplementation because I think this is where your problems may have originated.
    These pills ccntain high levels of vitamin/minerals for pyroluria:

    2 Depyrrol tablets contain:

    50mg P5P

    20mg B6 pyroxidal

    210mg zinc gluconate

    83mg manganese

    A warning is given about taking these when pregnant or breast feeding without a doctor's supervision.

    This is why:

    A normal healthy womans monthly cycle increases estrogen, which in turn increases her copper absorption from her diet.

    This copper increase is to make sure that if one of her eggs get fertilised and she starts to form a fetus, the first thing it needs to survive and grow is copper to form collagen, arteries and a heart..

    Once the fetus has formed and is growing, estrogen and copper levels stay high throughout the pregnancy as the baby grows. There is a large increase during the 3rd Trimester (last 3 months), as the baby needs to start taking large amounts of copper from the mother and storing it in its liver, ready for when he/she is born and will still be growing apart from the mother. This is the time when some mothers crave high copper foods, such as chocolate as her copper levels drop.

    Pyroluri mothers have problems because the disease itself causes high copper levels in the mother even before pregnancy, due to pyrolles causing large losses of B6 and zinc (both copper antagonists). This causes the copper levels to rise with all the attendant high copper symptoms,.

    Once pregnancy starts with a high Pyroluria mother, the copper levels will be much higher than a normal pregnancy due to extra copper from the pregnancy, as well as the pyroluria copper, which is why it is recommended that copper levels be monitored by your doctor and an appropriate copper level maintained to ensure the comfort of mother and baby.

    The danger of self medicating Deprrryl without testing, is taking too high a dose can lower copper too much, especially during the 3rd trimester when the baby is taking a lot of copper from the mother. This can leave the mother with low copper and a build up of B6 (P5P), Zinc and Manganese with a high ongoing intake of Depyrryl.

    If this scenario is correct in your case, then your symptoms of neuropathy could be caused by the high B6 (P5P) and low copper. Taking extra P5P after birth would make the symptoms worse and lowering the dosage now would not necessarily reduce the symptoms.

    The other problems of Parkinson's and MS symptoms, could also be explained by low copper as well as increase in manganese from an increased Deprryl intake.

    High manganese can cause symptoms of both Parkinson's and MS.

    I want to stress that all the above scenario is only a possible explanation of your symptoms and only a doctor can carry out a full examination,diagnosis and testing .

    IMO you should not be doing anymore self medicating for your problem. You need to be examined by a doctor who is conversant with treating pyroluria and can carry out copper,ceruloplasmin, B6, zinc and manganese testing. Testing Vitamin B12 levels to rule a deficiency as well as they can mimic low copper symptoms.

    Neuropathy, MS and Parkinson's symptoms need investigating by a doctor.

    If your primary doctor is not used to treating pyroluria then I'm sure the lab where you had your test is familiar with doctors who treat it in Holland and can recommend some in your area.

    If you are worried about explaining all the above take a copy with you when you visit the doctor.

    This thread gives details of what all pyroluria patients should know, including testing and monitoring by doctors. There is also a link to a Pyroluria Facebook site you can join.

    Gefeliciteerd met je baby ! Laat ons weten hoe u na het zien van uw arts.:balloons:

    Last edited: Jan 22, 2015

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