[Jack]

Dr. Ben,

As I learn more about how my genetic mutations impact the methylation cycle in my body, my focus has expanded well beyond the MTHFR gene itself. My first order of business is to address the CBS/BHMT piece of the puzzle.

Since the website is called mthfr.net not methylation.net, I was wondering if you preferred that we do not post question that are non-MTHFR on the site? One idea I have was to set up another forum topic called “Post CBS questions here” or “Post Detox questions here” like you have for MTHFR.

Since the volume on the site is growing, this might make it easier for new people to get useful data quicker. People with C677T ++ may be initially confused with posts about “CBS Drains”, etc.

You site has been invaluable to me, mostly because of people like you and Lynn that take the time to address questions. It has accelerated this process for me by months! Thank YOU!

[Lynn_M]

Jack,
I have a friend I’m trying to help that is hetero A1298C plus homozygous for both CBS mutations. She had started on methylB12, adenosysB12, metafolin, and other supplements. Her chiropractor recently muscle tested her and told her she needed to discontinue the methylB12 and adenosysB12 because her body didn’t like them.

Now I don’t know how reliable muscle testing is. I have encouraged her to do the methylation pathway panel, but her chiropractor won’t order it for her. She’s going to ask her PA next. But I know you have written about needing to address the CBS component before fixing methylation.

I have a keen interest in anything you want to share about the CBS mutations. Since they may interfere with MTHFR protocols, I think discussion of them deserves a place on this website.

[Jack]

Lynn,

I will continue to post my progress. That’s why I would like Dr Ben to add additional forums so the site does not become dificult for new users with a MTHFR focus.

You cannot fix Methylation until you have CBS under control. IT’s like trying to build a house starting with the second floor. The foundation is CBS and the first floor is detox path. Your friend is creating problems exactly as I did. I was so eager to see benefit of methyl-anything, that I jumped the gun.

[melinda]

Can you share what protocal you do to correct the CBS first??

[Tara]

Are CBS mutations affiliated with both 1098 mutations and 677, or just 1098? And does Dr. Ben’s MTHFR test indicate the presence of a CBS mutation?

[Lynn_M]

Tara,
CBS mutations are a different entity than MTHFR mutations. They both affect methylation though. The Spectracell test Dr. Ben offers now only tests for C677T and A1298C. He plans to offer soon a test of more methylations SNPs, and that test will include the CBS SNPs.

Dr. Yasko’s genome testing and 23andME both test for CBS.

[Debbie McQueen]

My son and I have the CBC mutation and are successfully using the following protocol pending individualized treatment recommendations from a specialist he\’s seeing here locally. He is 1298 homozygous and I am a 677/1298 compound heterozygote. We also both have COMT, SOD2, GSTM1, and GSTP1. We have seen profound improvement since starting treatment for CBC/SOUX.

http://www.heartfixer.com/AMRI-Nutrigenomics.htm#CBS:%C2%A0%20Cystathionine%20Beta%20Synthase

[freshveggies]

I have a CBS and BHMT mutation plus others. My doctors protocol is like the heartfixer. Wants me to take acetly L -Carnitine, TMG, Yucca and gaba. How have these worked for you. I am afraid of starting not knowing how the carnitine and tmg will affect me. Did you take these and if so how did you feel. Thank you

[freshveggies]

HI, I have a cbs and bhmt mutations along with some others. My doctor wants me to start on acetly L caritine, TMG, Yucca and Gaba. How did you feel on these?

[Heather]

I recently had a genetic report created for me as my extended family tends to have MTHFR mutations that we believe have led to MS, bipolar disorder, etc. My report says “1298A>C AC and 677C>T CC “No increased risk of Hyperhomocysteinemia”. But then it says “The patient MTHFR function is slightly reduced and no significant hyperhomocysteinemia is expected”. Can you tell me what this means? Thanks.

[ladrhesa ash]

Hello Dr. BENN I HAVEC677T AND A1298C gene mutation i wanted to know a few other questions as well thank you for answering some major question now i know why i miscarried and why i have depression. Along with fibromyalgia. I want help i also have asthma and come from s family that has heart disease. Please help. Thank you in advance

[Maxine]

Dr Ben. I have tried to do two post here, in some length and don’t think they went through. How Can I send you a email, to give you some details so I know what test to get done, and how to proceed? I did have a clotting test done, came back with a high Homocyst(e)ine, plasma. I am also a woman 59, many cardiac issues of top of several others. I have felt I have a clotting problem in my arteries causing the chest pains, MI, trips to Er and it scares me to death. I live in a area where the care is awful and trying to get a Dr get to the bottom of it is almost next to impossible. On this recent lab, of the homocyst(e)ine, all I got was a email from the nursre stating it is a little elevated and the Dr wants you to get your VIT B 6 checked! He thinks I am low on this Vit. Ok, no mention of a cardiac marker. No mention of the other Vit Bs. I am so frustrated here. I am not sure if he is willing to do a genetic test for me. Seems this area also, no one wants to run genetic testing? I am chronic and a multitude of problems. I am pretty debilitated at this point with no quality of life. Can you please respond if you get this and let me know how I can ask you some questions. I have every reason to think I had a PE, (test and everything was pointing that way) ER Released me even so. So that is what lead to ask this Dr for a test on Thrombosis, and then the results led me in research and to the gene and you! Appreciate it.

[Sharon Olson, DO]

I have a bunch of abnormalities on my 23&me testing and it makes me who I am and I am delighted to find the answers I need! Your methylation education is great & I can’t thank you enough for being dedicated to your work. Every day I study the information I have received from you and it helps immensely in caring for my patients/clients who also need help. Were you aware that NY made it illegal for patients to obtain the 23&me test on their own? I was a bit outraged when I found out that NY prevents people access to this info because knowing the abnormalities in methylation is essential to helping people get better from the inside out. I no longer have any of the instability I have felt all my life prior to knowing about my MTHFR, CBS, VDR, MAO A, BHMT & COMT abnormalities! I no longer look for external causes throwing me out of balance, instead I question what did I do to throw myself out of balance? The answer is usually easy to discover now….
Thank you Ben from the bottom of my heart, I now can truly help my patients feel better & live happier!

[Sharon Olson, DO]

I have a bunch of abnormalities on my 23&me testing and it makes me who I am and I am delighted to find the answers I need! Your methylation education is great & I can’t thank you enough for being dedicated to your work. Every day I study the information I have received from you and it helps immensely in caring for my patients/clients who also need help. Were you aware that NY made it illegal for patients to obtain the 23&me test on their own? I was a bit outraged when I found out that NY prevents people access to this info because knowing the abnormalities in methylation is essential to helping people get better from the inside out. I no longer have any of the instability I have felt all my life prior to knowing about my MTHFR, CBS, VDR, MAO A, BHMT & COMT abnormalities! I no longer look for external causes throwing me out of balance, instead I question what did I do to throw myself out of balance? The answer is usually easy to discover now….
Thank you Ben from the bottom of my heart, I now can truly help my patients feel better & live happier!

[shawna gerson]

im trying to work on my BHMT not sure what to do…. so that i can then work on my CBS gene and i am trying to aviod sulfer i think so i can eventually work on my mthfr gene

in the long run i would like to get rid of this lyme disease and i need my body to help me detox….. doing this all with neuro lyme so i am taking a lot of notes any info as to what i should do or take would be greatly appreciated

shawna44@gmail.com
412-969-5348

[Kristy]

I had blood work done by my Endocronologist a year ago and tested positive for MTHFR C677T …they didn’t even bat an eye over it, nothing said. I was diagnosed with Hashimotos Disease in Jul 2012 and started on Synthroid in Jan 2014, yes it took dr that long to finally refer me to Endo. Since then I have been diagnosed with Fibromyalgia, Chronic Fatigue, I have a Meningioma..lots of body pain, severe fatigue ad memory problems. For some reason I remembered the gene mutation and did research last night..Holy Cow what an eye opener..but im really confused/overwhelmed as to what to do to help myself as I don’t believe there are any Drs around here that specialize in this..I will do whatever is necessary to feel good/normal again, just don’t know where to start, any help would be greatly appreciated

[priscilla kates]

I have Heterozygous MTHFR C677T/A1298C: One copy each of the MTHFR gene mutations tested,C677T and A1298C was detected. These mutations correlate with reduced enzyme activity. Homocysteine was 12 umol/L.
Maintenance of homocysteine levels below 12 umol/L is recommended.
The test was done on 01/11/2013. My primary care physician at the time
said: I’m not sure what all this means. My daughter told me she had the test done and has 1 mutation on C677T gene which makes her unable to correctly produce the MTHFR enzyme. Basically what her doctor said is that she cannot produce the active form of folic acid so she has to take it as a supplement…she takes 5-MTHF by Thorne Research.
I’ve been using Folic Acid Liquid Folate…what should I be using in
the way of a supplement?
Thank you

[Greg McFarland]

I am positive for the mutation mthfr c677t and was prescribed Deplin 3 years ago by a physician ( pychiatrist) that retired shortly thereafter. I have many of the typical side effects, pain , loss of energy ( too long a list to state here) of more serious problems probably associated with this but can’t find a dr. that takes this mutation diagnosis seriously . Please direct me to the type physician I should see for this problem. Thank you.

[Peggy Buckley]

I am a 77y/o female who was dx. with the MTHFR gene mutation in 2008 after a pulm. embolism following surgery. My homocysteine level also was elevated. I have had a heart attack and have a heart murmur and HTN. Have had back problems x 5 yrs. with dx of spinal stenosis. Had lumbar lameinectomy/ posterior lumbar fusion of L 4 & L 5. Back pain eliminated but my problem is weakness and heaviness in my legs. Have had a lumbar facet inj. and lumbar rhizotomy, both to no avail. I am beginning to explore other possibilities for this leg problem and accidently came across your web site. Am very frustrated and need to know what kind of specialist to see who may be able to help me. I did not even make a connection with my problems and MTHFR until I started reading about it on this site, and no doctor ever mentioned this dx even though it is on my med. records. I need some help. This has seriously affected my life. Thank you so much for any advice you might offer. Back surg was in April 2015 with other tx to follow.

[Anonymous]

Gratitude!!!

Just ‘day two’ starting to get my head around my new direction.
Female
35 years periodically hunting for answers after bad patches.
6years being Aspergers (dx)
63 yrs misunderstood

Got ‘here’ via trying to convince British Drs that; Mast Cell Disorders exist. ‘Turned over all rocks’, prior and dismissed over and over. FYI Socialized Med spreads minimal basic help to the acute and drugs the chronic. They hope the elderly just do not ask for much and reserved Brits just suffer rather than ask till too late.. NHS is collapsing here in England and awareness of ‘options’ recently putting enormous pressure on the NHS via younger I T generations.

Now what a job ahead of me!! And steep learning curve!

Did 23&me as a lark for 60th birthday to see my ancestors, had no idea I would be ending up alerting my own family and following generation how to help themselves sooner than I am going to be able to help myself. My entire extended mothers side of family is text book! This seems why I had a Downs bother who died very young, his life is still a family secret! I am reeling about new opportunities!

THANK YOU

Ricia Saxton Banther
Boise Idaho, and Bath England

[Spocks Daughter]

Gratitude!!!

Just ‘day two’ starting to get my head around my new direction.
Female
35 years periodically hunting for answers after bad patches.
6years being Aspergers (dx)
63 yrs misunderstood

Got ‘here’ via trying to convince British Drs that; Mast Cell Disorders exist. ‘Turned over all rocks’, prior and dismissed over and over. FYI Socialized Med spreads minimal basic help to the acute and drugs the chronic. They hope the elderly just do not ask for much and reserved Brits just suffer rather than ask till too late.. NHS is collapsing here in England and awareness of ‘options’ recently putting enormous pressure on the NHS via younger I T generations.

Now what a job ahead of me!! And steep learning curve!

Did 23&me as a lark for 60th birthday to see my ancestors, had no idea I would be ending up alerting my own family and following generation how to help themselves sooner than I am going to be able to help myself. My entire extended mothers side of family is text book! This seems why I had a Downs bother who died very young, his life is still a family secret! I am reeling about new opportunities!

THANK YOU

Ricia Saxton Banther
Boise Idaho, and Bath England

[karyn french]

METHYLENETETRAHYDROFOLATE AMD REDUCTASE (MTHFR), DNA RESULT
POSITIVE FOR ONE COPY OF THE C677T VARIANT AND ONE
COPY OF THE A1298C VARIANT. This individual is compound heterozygous for the
variants, C677T and A1298C in the MTHFR gene.

I am a 61yo white female who has had 3 normal pregnancies, HTN beginning at age 38, achy joints and muscles since mid-50s, no nervous disorders, elevated homeocysteine levels, double lumbar fusion at age 61, hypothyroid, abnormal glucose metabolism, along with elevated triglycerides and cholesterol.

I was only tested because my daughter tested positive for both the C and A in the MTHFR gene. My granddaughter has auto-inflammatory response to anxiety. My daughter reports over-reacting to things.

Processing….

[karyn french]

METHYLENETETRAHYDROFOLATE AMD REDUCTASE (MTHFR), DNA RESULT
POSITIVE FOR ONE COPY OF THE C677T VARIANT AND ONE
COPY OF THE A1298C VARIANT. This individual is compound heterozygous for the
variants, C677T and A1298C in the MTHFR gene.

I am a 61yo white female who has had 3 normal pregnancies, HTN beginning at age 38, achy joints and muscles since mid-50s, no nervous disorders, elevated homeocysteine levels, double lumbar fusion at age 61, hypothyroid, abnormal glucose metabolism, along with elevated triglycerides and cholesterol.

I was only tested because my daughter tested positive for both the C and A in the MTHFR gene. My granddaughter has auto-inflammatory response to anxiety. My daughter reports over-reacting to things.

Processing….

[Lisa Harrison]

Dr. Ben, please help! My 8 year old son has been suffering from anxiety, episodes of stiffness in his extremities, chest pain, weight loss, fatigue for 8 months now. After several stays at Children’s Hospital Colorado, they said he possibly has epilepsy but he did test positive for MTHFR heterozygous. When I questioned his doctor about this, she said it is not concerning and not causing his symptoms but that is not what I have been reading. My family has a strong history of anxiety disorders, hypertension, depression, autism, Alzheimer’s etc.. How should I approach this. Should he see a genetic counselor? Do you see patients? I am concerned. Thank you, Lisa Harrison

[Lisa Harrison]

Dr. Ben, please help! My 8 year old son has been suffering from anxiety, episodes of stiffness in his extremities, chest pain, weight loss, fatigue for 8 months now. After several stays at Children’s Hospital Colorado, they said he possibly has epilepsy but he did test positive for MTHFR heterozygous. When I questioned his doctor about this, she said it is not concerning and not causing his symptoms but that is not what I have been reading. My family has a strong history of anxiety disorders, hypertension, depression, autism, Alzheimer’s etc.. How should I approach this. Should he see a genetic counselor? Do you see patients? I am concerned. Thank you, Lisa Harrison

[Lisa Harrison]

Dr.Ben, sorry.. He tested positive for C677T

[Lisa Harrison]

Dr.Ben, sorry.. He tested positive for C677T

[Ann]

Can someone please direct me to the right person for help because my current doctor i don’t think understands the genetic issues. I am +/+ CBSC699T, BHMT-04, DAO, MTRR A66G, MTHFS, NOS2, NOS3, NOS3 G10T, PEMT, HLA,FOXE1, IL4RQ576R
I am +/- for MTHFR A1298C
My current doctor doesn’t seem to think there’s an issue but I am nutritionally deficient because I have systemic tissue fungus that’s eating my vitamins…B vitamins. I have labs tests to show this….I am very ill and can’t seem to detox molds, Ihave been told from some other holistic test that was performed.
I need to find an expert who understands the methylation pathways and my genetic defects and how the systemic tissue fungal overgrowth has affected my health and liver detox pathways…
Thank for immediate help.

[Judy Antonucci]

Dr. Ben
My 17 year old high functioning autistic son was recently diagnosed with PANDAS/PANs. This is an autoimmune disease that caused inflammation to his brain due to antibodies from infections attacking it. This inflammation caused sever psychiatric syndromes where he needs to be on high dose of antibiotics. He recently had genetic testing and tested +/- for the MTHFR (C677T) gene. I know nothing about this gene besides what I just read in your website. He has autism & I had two miscarriages before him. I also took the folic acid vitamin everyday during my pregnancy with him & vommitted daily. Is this related? Please advice me what I should do know that he tested positive with this gene. He did test negative for the MTHFR (A1298C) gene. Thank- God! Judy

[Debbie Futch]

Hi, I recently discovered that I have the MTHFR gene mutation C677T. My mother died of MS, my sister has this same gene mutation and I have Lupus, Connective Tissue Disease, Fibromyalgia, RA, chronic pain, chronic fatigue and diabetes. I suffer from severe depression and anxiety. My sister informed me about the mutation and said her doctor recommended she notify me and our daughters as it could affect lupus and our daughters who are of childbearing age. I have been fighting for Social Security disability since 2/2013 and finally have a hearing scheduled for 11/8/16. Not one of my doctors can explain to me how this mutation affects me. My Rheumatologist wants to put me on Methotrexate for lupus inflammation and says I’ll require high doses of folic acid to counter the effects of this chemo drug. I cannot find a doctor who can help me analyze the results and tell me what to do or how to proceed. Can you help me with additional information or finding a doctor in Jacksonville, Florida? Thank you so much.

Sincerely,

Debbie

[Author]

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