MTHFR Hitting a Family Hard – There Are Solutions

Question from a MTHFR Reader:
My mother had a severe stroke at age 58 which left her unable to speak or move her right side. Her only other health ailment prior was bipolar disease…. They never found the cause of the stroke… Then I had Eclampsia and seized several times before delivering my 29 week preemie… They never figured out why. Then my 40 year old brother who is extremely healthy had pulmonary emboli…. Finally after many tests, The hematologist found the mutation. I take Folplex and a baby aspirin. Is that enough? & at what point do I test my kids and start treating them?

Dr Ben’s Response:
I am sorry to hear about your mother.

My hat is off to your hematologist for discovering the MTHFR mutation. Do ask him/her for the specific mutations and find out if you have additional genetic mutations – such as Factor V Leiden.

It is a must that you know exactly which MTHFR mutations you have as the severity varies and so does the treatment your doctors need to perform. Lifestyle changes also vary depending on which MTHFR mutation(s) one has.

In reading your statement, it appears that you ‘understand’ the potential cause of your mother’s stroke: a MTHFR mutation.

A MTHFR mutation can cause sudden strokes and bipolar.

MTHFR C677T was significantly associated with all of the combined psychiatric disorders (Schizophrenia, Bipolar Disorder and Unipolar Depressive Disorder)” (1)


“The association between inherited gene mutations and arterial ischemic events was modest: factor V Leiden mutation (OR, 1.21; 95% CI, 0.99-1.49), Prothrombin G20210A mutation (OR, 1.32; 95% CI, 1.03-1.69), and MTHFR TT mutation (OR, 1.20; 95% CI, 1.02-1.41). Subgroup analyses of younger patients (<55 years old) and of women revealed slightly stronger associations overall.” (2)


A MTHFR mutation can cause pre-eclampsia:

“The data indicate that the T677 variant of the MTHFR gene is one of the genetic risk factors for pre-eclampsia.” (3)


A MTHFR mutation can cause Pulmonary Emboli:

“MTHFR/ C677T in Chinese/Thai populations (OR 1.57; 95% CI 1.23-2.00, p = 0.0003), and ACE I/D in African American populations (OR 1.5; 95% CI 1.03-2.18, p = 0.03) were found to be significantly associated with venous thromboembolism (VTE) (pulmonary embolism and deep venous thrombosis)” (4)

A MTHFR mutation is strongly linked within a family network as MTHFR is an autosomal recessive pattern. This means that both copies of the gene in each cell contain mutations. Commonly, the parents of a person with an autosomal recessive condition each have a single copy of the MTHFR gene mutation. This means that the parents most likely do not show symptoms or signs of MTHFR yet they are very likely to have deficiencies of Vitamin B12 and folic acid.(5) This translates into MTHFR being a silent killer that must be identified within all family members.

You state you currently take Folplex and a baby aspirin and wonder if that is enough. Great question.

I’ve no idea as I do not know which MTHFR mutation you have.

However, I’m going to be bold here and say no – that is not enough.

Those with certain MTHFR mutations need to change their lifestyle as they are more susceptible to toxic overload as they cannot methylate well. Lack of methylation causes an increased body burden which means that toxins accumulate and wreak havoc within the body unless they are removed – or prevented from coming in the first place.

Thus, living a more pure lifestyle, performing detoxification protocols with your physician and understanding where toxins come from in our environment is crucial. I encourage all to read the websites of the Environmental Working Group and Environmental Health Perspectives

Understanding proper detoxification methods is also crucial. Foot Soaks, Detox Foot Pads, Colon ‘Blows’ and ‘Diets’ all are gimmicks or dangerous. As an expert in Clinical Ecology, also known as Environmental Medicine, I am well versed in educating others about proper detoxification methods and reducing exposures to environmental toxins. It is my plan to develop a comprehensive Detoxification Course which will be available at Dr Ben Lynch once it is available. It will be announced here at and to my subscribers. 

Now in terms of Folplex. I am not sure if Folplex is sufficient for you as it contains inferior forms of folic acid, B6 and B12. Those with certain MTHFR mutations cannot process inferior forms of any of these nutrients – especially those which require methylation. The nutrients requiring methylation are folic acid and B12. If B12 and folic acid are not methylated due to a MTHFR mutation, then the body does not utilize them and homocysteine builds up. Elevated homocysteine leads to pulmonary embolisms, ecclampsia, strokes and others.

Very few physicians understand MTHFR mutations and even fewer understand nutritional biochemistry. I am solid in nutritional biochemistry and becoming very solid in MTHFR mutations; however, I feel I will never reach the expert level I desire as both fields are massive and require constant research – which I do on a daily basis.

Back to Folplex. If I were your physician, I would prefer you to take the more active forms of B12, folic acid, B6, B2 along with TMG. I’ve developed a product called HomocysteX which currently contains the active forms of B12 (methylcobalamin), active folate (5-MTHF) and active B6 (pyridoxal-5-phosphate). This is a comprehensive and potent formula to help reduce homocysteine as it contains methylated nutrients which bypass specific MTHFR mutations.

In my research, I have recently improved the formula of HomocysteX as there are other nutrients which I feel are needed in order to further reduce homocysteine levels effectively and skirt around the MTHFR mutation. I’ve added active vitamin B2 (riboflavin-5-phosphate) and TMG. This new formula is arriving in our warehouse any day. The current formula is still effective.

The other benefit to HomocysteX is that it is pure. As I mentioned earlier, I am an expert in environmental medicine which makes supplement manufacturers not like working with me. I demand purity and quality ingredients. Sadly, it is nearly impossible to find manufacturers which provide the level of quality I demand.

The ‘inactive ingredients’ in HomocysteX are simply: vegetarian capsule (hydroxypropyl methylcellulose, water), L-leucine, cellulose, and silicon dioxide. Leucine is an amino acid used by the body, cellulose is undigestable plant material and silicone dioxide is sand.

I’d also combine those nutrients along with fish oil or krill oil, n-acetyl-l-cysteine, sauna, multivitamin with active folate, probiotics, nattokinase and a thorough education in avoidance of chemicals in all forms.

Folplex also contains tons of ‘inactive ingredients’ which are far from beneficial for anyone – let alone individuals with defective detoxification:

Folplex tablets are intended for oral administration.

Each Tablet Contains: 2.2 mg folic acid, 25 mg Vitamin B6 and 1 mg Vitamin B12.

INACTIVE INGREDIENTS: Dibasic Calcium Phosphate, Microcrystalline Cellulose, Modified Cellulose Gum, Crospovidone, Magnesium Stearate, Hypromellose, Titanium Dioxide, Polydextrose, Triacetin, Polyethylene Glycol, Iron Oxide Red, Iron Oxide Yellow.(6)


I would test your children now for MTHFR and begin appropriate treatment immediately if required – and it likely is given your family history. Again, talk with an expert physician who can help guide diagnosis and treatment for your children.

Consider having your children take HomocysteX, Kid’s Optimal Multivitamin, Optimal Fish Oil capsules and ProBiota 12 capsules. N-acetyl-l-cysteine may be considered as well in order to assist detoxification.

Again, I wish I had a referral network but currently I do not. Continue working with your hematologist and your other physicians. You may want to call around various medical associations and look for a MTHFR expert in your area.

Medical Associations: FIND A GREAT DOCTOR (not a close-minded one)

  • American Association of Naturopathic Physicians
  • Orthomolecular Medicine
  • Functional Medicine
  • American Holistic Medical Association
  • American College for the Advancement of Medicine
  • American Academy of Environmental Medicine

I hope you find this information useful – and others as well.

It is my goal to back up everything I say here at with a research citation. This way it substantiates the importance of the MTHFR gene mutations, the prevalence and allows other health professionals to obtain knowledge quickly and effectively.

Please do post below how you are getting on, improving and how your family is doing – including your children. The more we all work together and demonstrate that those with MTHFR gene mutations can lead a healthy, normal life, the less fear and stigma there will be around it.

That said, I highly encourage emails, comments and sharing of the posts here at

To your health,
Dr Ben

(1) Meta-analysis of MTHFR gene variants in schizophrenia, bipolar disorder and unipolar depressive disorder: Evidence for a common genetic vulnerability? PMID: 21185933

(2) Association between factor V Leiden, prothrombin G20210A, and methylenetetrahydrofolate reductase C677T mutations and events of the arterial circulatory system: a meta-analysis of published studies. PMID: 14660985

(3) Methylenetetrahydrofolate reductase polymorphism and pre-eclampsia. PMID: 9192280

(4) The genetics of venous thromboembolism. A meta-analysis involving approximately 120,000 cases and 180,000 controls. PMID: 19652888

(5) Genetics Home Reference of the National Library of Medicine. Homocystinuria

(6) Folplex

Disclaimer: In no way is the information presented at beyond informational and educational use only. Diagnosis, treatment or prescriptions are not possible at Always talk with your health professional for medical advice and treatment.

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20 Responses to “MTHFR Hitting a Family Hard – There Are Solutions”

  1. Hans Rudolf September 8, 2011 at 11:46 pm # Reply

    Dr Ben,
    great thanks for your help in the (new) field of DNA and MTHFR, (MethyleneTetraHydroFolate Reductase)
    there is a good book in german, about Homocysteine and MTHFR:
    Prof. Olaf Stanger
    Homocystein, Klinik, Therapie, Prävention

  2. Sterling Hill September 9, 2011 at 10:02 pm # Reply

    Dr. Ben I really am grateful for all you are doing. I have gone 18 months without a pulmonary embolism. This is the longest in 16 years I have gone without a PE. My MS symptoms are nearly gone and I have lost 35 lbs with Hashimoto’s in 7 weeks. I do have 3 times the upper expected limit of lead, High gadolinium, aluminum and mercury. I am told once the lead toxicity goes down, the mercury levels will show higher ranges so I have a long way to go. I am only getting better now thanks to gutsy doctors like you coming out and making people aware of this. There were many excited people today when they found out your site was up. We just want one place where we can find solutions and prevent further health issues.

  3. Ellen Williams September 12, 2011 at 12:25 pm # Reply

    I think you are mistaken by saying the T677C MTHFR Gene Mutation is associated with Mental Illness. The T677C is associated with disease and the MTHFR Gene A12098 is for mental illness. All of this information is backed by the Humane Genome Project.

    • Dr Ben September 12, 2011 at 6:36 pm # Reply

      Ellen –

      You are right that literature states that the C677T MTHFR Mutation is typically related to elevated homocysteine and cardiovascular issues to name the top two concerns with C677T.

      It is also commonly stated that A1298C is known for mental disorders such as schizophrenia, bipolar and depression.

      I see most of this in my findings as well. This is why this meta-analysis is so important to share and why I shared it.

      Science is always evolving and developing. MTHFR mutations will continue to do so and new ones will pop up.

      In my research, I tend to look for meta-analyses which look at a bunch of studies and interpret the findings all at once. This makes it a lot easier to understand a lot of research quickly.

      I cited my reference in that comment and the citation refers to this research abstract:
      “Past analyses examining the relationship between genetic variation in the 5, 10-methylenetetrahydrofolate reductase (MTHFR) gene and psychiatric disorders have provided mixed and largely inconclusive findings. MTHFR is involved in the one-carbon metabolic pathway which is essential for DNA biosynthesis and the epigenetic process of DNA methylation. We conducted a meta-analysis of all published case-control studies investigating associations between two common MTHFR single nucleotide polymorphisms (SNPs), MTHFR C677T (sample size 29,502) and A1298C (sample size 7934), and the major psychiatric disorders (i) schizophrenia (SZ), (ii) bipolar disorder (BPD), and (iii) unipolar depressive disorder (UDD). In order to examine possible shared genetic vulnerability, we also tested for associations between MTHFR and all of these major psychiatric disorders (SZ, BPD and UDD) combined. MTHFR C677T was significantly associated with all of the combined psychiatric disorders (SZ, BPD and UDD); random effects odds ratio (OR)=1.26 for TT versus CC genotype carriers; confidence interval (CI) 1.09-1.46); meta-regression did not suggest moderating effects of psychiatric diagnosis, sex, ethnic group or year of publication. Although MTHFR A1298C was not significantly associated with the combination of major psychiatric disorders, nor with SZ, there was evidence for diagnostic moderation indicating a significant association with BPD (random effects OR=2.03 for AA versus CC genotype carriers, CI: 1.07-3.86). Meta-analysis on UDD was not possible due to the small number of studies available. This study provides evidence for shared genetic vulnerability for SZ, BPD and UDD mediated by MTHFR 677TT genotype, which is in line with epigenetic involvement in the pathophysiology of these psychiatric disorders.”

      The word ‘always’ in medicine is dangerous to use as it narrows the minds of doctors.

      That said, according to this meta analysis, their main statement states this point clearly:
      “This study provides evidence for shared genetic vulnerability for SZ, BPD and UDD mediated by MTHFR 677TT genotype, which is in line with epigenetic involvement in the pathophysiology of these psychiatric disorders.”

      The abstract I referenced is here – and it is also linked right next to my comment in the blog post itself:

      So doctors need to be aware that MTHFR C677T may also be implicated in mental disorders and realize their patients may improve their symptoms greatly once the mutation is bypassed.

      Dr Ben

    • Sonia June 20, 2013 at 6:23 pm # Reply

      It was thought for years that I was bipolar. I was treated for it. Nothing changed. I had anxiety attacks or so they thought. In January of 2012 I had a massive stroke, thank God I am 95% recovered. When diagnosed with FVL and treated with blood thinners it was like I became a new person. I no longer hurt all the time. My moods stablized. I do not get bent over petty things that use to rack my brain over. I believe That lack of oxygen can make you appear to have illnesses you do not have. It depends on the severity of your mutation. I personally have found that I am nicer to people because I have more tolerance for them than in the past before treatment. Also many other issues are resolving themselves medically. I have went from taking 16 pills a day to taking 2-3. major difference and no longer any anti-depressants or antianxiety. Just a little food for thought. How many people are miss diagnosed with neurological issues that may not be that at all.

      • Ben August 27, 2013 at 8:06 pm # Reply

        Hi Sonia, I am not sure what FVL is, can you plz let me know how you were diagnosed?

  4. Nancy September 13, 2011 at 3:55 am # Reply

    My sister and youngest daughter just tested positive for the AC mutations and I for two A mutations. Our doctors have given us Metagenics Ceralin Forte but is the methylated forms of B12 and folate enough and why aren’t the other B’s needed to be methylated. With the MTHFR gene can we process the other B’s?
    My sister has MS and toxic levels of arsenic, cobalt and boron (she lives in Utah). Her Dr. is giving her treatments alternating chelation and nutritional infusions. I have alerted the family on both of my parents sides and also my ex husbands but only some seem to be responding to getting tested. Your site is helpful and I will keep reading but dont understand why the other B’s are not methylated.

    • Dr Ben September 13, 2011 at 6:33 am # Reply

      Nancy –

      The B vitamins that are required for methylation – such as vitamin B2 (as riboflavin-5-phosphate) and vitamin B6 (as pyridoxal-5-phosphate) – should be in their active forms.

      The other B vitamins are not directly involved in the MTHFR enzyme so they do not need to be in their active states. Your body should handle those just fine.

      I do recommend that TMG be used though as TMG (which is Betaine) directly breaks down homocysteine and completely bypasses the MTHFR mutation.

      Riboflavin in its active form should also be used as riboflavin is required to drive the MTHFR enzyme. When riboflavin is low, homocysteine levels increase.

      Ceralin Forte is a good formula but there are better.

      Ceralin Forte does not have TMG, active B6, active B2 and it is not specific to lowering homocysteine. It is trying to do to many things in one formula. Having added NAC is great but the main point is to reduce homocysteine and bypass the genetic defect of the MTHFR mutation.

      HomocysteX is more suited for reducing homocysteine, in my opinion, perhaps because I formulated it. But I formulated it with one purpose in mind – not three.

      HomocysteX is here. The new updated formula arrives on Sept 23, 2011 and that will have the added active B2 and added TMG.

      This post may be helpful:

      Need to have your sister with MS be careful. If doctors are chelating her and she has MTHFR – especially the A1298C form, she is not going to be able to detox well at all and the chelating may make her very ill if not done properly. Coffee Enemas are fantastic. Consider epsom salt baths, vitamin D levels, DHEA levels and consider checking her Methylation ability with a lab test.

      Your family better listen to you and get tested if they want to prevent serious illness.

      Have them read this post:

      In health,
      Dr Ben

  5. Tami September 17, 2011 at 8:32 pm # Reply

    I had 3 miscarriages before having a live birth. Then I gave birth to 3 boys and then 2 more miscarriages and then gave birth to another boy. At 39, I did genetic testing because I wanted to try one more time for a girl and didn’t want to miscarry. The reproductive endocrinologist said I had MTHFR C667T and to take Folex and a baby aspirin. They also put me on heparin shots once pregnant. I lost 3 more babies and then they put me on Lovenox and I lost another baby. When I got pregnant again, I didn’t want to use shots so I saw on the internet Fibrovan during the whole pregnancy and I gave birth to a healthy girl at 44. I also took the Folex and baby aspirin and many herbs that are high in B vitamins. My last two kids have deep holes where spina bifida would be present. They closed thankfully although I took high does of folic acid. I am not currently taking any folex or Fibrovan and have many aliments. I am depressed, low energy, weight gain, joint pain (tested for everything and just got back negative or healthy. I have pain in my left calf and hope that it is not a blood clot. My father has had a PE and many blood clots in his calf and was recently tested for L Factor 5. I was tested and it was negative. My endocrinologist tested me. I have an appointment for a hemotologist on 9/22 and was hoping to figure out why I have numbness and joint pain. My mother’s mother has schizophrenia and my mother has not been tested for MTHFR, but she has always been depressed and on medication. She has had two B9 tumors….neurofibermytosis Type 2. Is neurofibermytosis related to MTHFR? Is thyroid disorders related? All the women are on snythroid. I am now 46 and feel 80 due to low energy and pain in joints. Do I need to be tested for toxins? How do I remove toxins? My pain and sudden allergies started after having to deal with mold from a flood in my parents cabin. I was in charge of taking care of all the contents and going through them and discarding them. My health has taken a turn for the worst after exposure. This was last October and my health has been going down hill since then. I even have had an ear infection (never had on in my life) and bronchitis (never had that either) since being exposed to mold. Thanks, Tami

    • Raelene Joran, PhD December 24, 2013 at 10:52 pm # Reply

      There is no doubt in my mind that you reacted to the mold. I’m sorry not to see a response from Dr. Lynch here, but you might want to contact a functional medicine doctor, like Cheryl Leventhal, MD, trained as an oncologist, who has experience with mold. Mold is an allergen, depresses the immune system (thus INDIRECTLY causes cancer). While it is only case studies, I know of several people exposed to mold who became ill, including cancer. Please stay away from mold. I hope you find good answers to your situation.

  6. Lisa Robino-Wolter September 19, 2011 at 3:52 pm # Reply

    Thank you for your very thorough answer. My mutations are that I am heterozygous for both: A1298C and C677T. I am also experiencing severe depression. So I am apt to agree that the Folplex isn’t enough. But I am not sure how to find out if I need to Detox? Or how to proceed from there. I am going to ask to switch to Homocystex. Also, my Lieden level was slightly low. And every other clotting disorder checked for was normal. My homocysteine level was 13 at diagnosis, and 9 after taking Folplex Bid for 1 year.

    • Dr Ben September 19, 2011 at 6:16 pm # Reply

      Hi Lisa –

      If you have compound heterozygous mutations for MTHFR, you need to detox.
      Issue is it is tricky because if it is done incorrectly, detoxing will make you feel worse.

      Asking a few questions should let you know if you need to detox:
      – Do you breath air?
      – Do you drink water?
      – Do you touch things?
      – Do you eat things?

      Those questions may seem inappropriate and, frankly, lame; however, they are absolutely accurate.

      The true question is how to detox when you know your methylation pathways are messed up due to the MTHFR mutation?

      That is the question that truly needs an answer as those with MTHFR mutations cannot just go to the sauna or ‘do a cleanse’ without risking feeling worse.

      I highly recommend talking with your doctor about these things:
      – Switching to Metanx as that is prescription only and quite potent.

      – Adding TMG to it.

      – Your doctor won’t know about Homocystex. They may be open to it but they will likely not feel comfortable doing so as it is a supplement – not a ‘drug’.
      Doctors probably won’t understand the reasoning behind the added riboflavin and TMG either – unless they are functional medicine doctors.

      – Having your doctor order the Methylation Profile by Doctor’s Data so you can see what your methylation levels are. This way, you can see how you can detox – which is critical information.
      If your doctor cannot order that test, you may order it directly from here:

      You may schedule a 15 minute free consultation and I can explain more about methylation and why this test is needed.

      In health,
      Dr Ben

  7. Tami Hirsch September 26, 2011 at 2:56 pm # Reply

    I need to correct my post. I took Folgard, not folex. My brain fog has been getting worse. I am currently not taking this. Last year a Dr. gave me from Douglas Laboratories, Nattasyn (like my Fibrovan I used in last pregnancy) and also for depression gave me L-Methionine and NeuroReplete (99% Pure 5-HTP). The Methylation pathway your talking about needs to have L-methionine. Should I be taking these supplements?

  8. Angela November 9, 2011 at 10:37 pm # Reply

    Hello Dr. Ben,

    I am a 28 year old female and have been pregnant 3 times, and miscarried all three times. I have no children. I just discovered with the help of my Dr. a year ago that I have the MTHFR gene mutation, and I am heterozygous…. My fiance’ and I are planning to try again with the regimen I was put on baby asprin once a day, along with 1mg of folic acid daily… I am terrified to try again and lose another baby :'( My fiance’ feels no we know whats wrong and how to treat it. I am trying to find out as much advice/information possible before I get pregnant so I know what I should take while I am pregnant, so I can have a healthy baby. Everytime I have been pregnant everything is fine the first 3 mos, I hear the babies heartbeat and everything, and at the end of the third month I miscarry, or the baby dies. This last time the baby died and I had to get a DNC. I was hoping to get some advice form you, and I also want to commend you for trying to find a solution to this.



    • Dr Ben November 15, 2011 at 7:45 pm # Reply

      Angela –

      Being heterozygous C677T is not as severe as the homozgyous forms.

      That said, it is still important to address it.

      I want to make it clear that there are other things involved in miscarriages besides MTHFR mutations. We cannot put all our blame on MTHFR mutations for every miscarriage.

      I know you are not doing this – you simply are looking for the cause and trying to find the solution so you can go full term.

      I recently found this paper on recurrent miscarriage which you may find interesting. It discusses MTHFR and a bunch of other potential causes as well. Read it over well – in parts – because it is pretty ‘thick’. Show it to your doctor.

  9. Amanda February 22, 2014 at 1:03 pm # Reply

    My psych did a mthfr mutation test since I seem to be resistant to some of my meds for bipolar/PTSD. I am homozygous for C677T. She put me on Deplin, which is ok, but reading alot of the material out there has led me to believe I may need more than just the L-methylfolate. How does the Homocystex Plus compare with the Deplin? Pricing will likely be the same… I think it would be around $60 a month for the Deplin…

  10. Luann April 19, 2014 at 1:49 pm # Reply

    I am truly confused. I am recently diagnosed with MTHFR C677T T/T with significantly high homocysteine levels. Significantly decreased folate serum. Significantly reduced B12. I have done a lot of reading on the subject and I have read so many blogs and other comments of people who feel so terribly ill and have so many health related problems. What I don’t understand is why all these people are so ill and I feel wonderful. I don’t feel sick anywhere. I do have a 26 year old son with Trisomy 21 which I am told is not inherited. I have not started the Deplin 15 mg, not have I started the methyl B12 yet that my doctor gave me (she also gave me no reason why I should take it, nor explained anything to me about this mutation – which I am also reading is common because most doctors are not educated in this.) Is it possible to not be sick or has it just not caught up with me yet?

  11. Tracy August 8, 2014 at 1:06 am # Reply

    I was diagnosed MTHFR homozygotic 677-T just over a month ago. that might explain the migraines, the miscarriages, at 51, it’s a little late to do anything about that now. but I am interested in being as healthy as I can. so I went gluten free, diary free, got the Optimal Multivitamin and the tumeric. for a month. the only difference I can tell is happening is I now have bright yellow urine. I don’t have more energy, I don’t feel less tired, I’m still getting headaches. now what?

  12. Alexandra Dib January 14, 2015 at 3:26 am # Reply

    Hello! If I am Homozygous C677T and my husband is Heterozygous C677T, would it hurt to give our children the chewable multivitamin you recommend for kids even if we don’t have them tested? Thanks so much!

    • Dr Lynch January 15, 2015 at 8:56 am # Reply

      Alexandra – absolutely. A quality multivitamin is much needed for most people. We know your children have at least one 677 SNP of MTHFR – and possibly two.

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