MTHFR mutation

[Tamistwins]

To all those smart parents out there in cyber world(lol)

 

I just got back results for the MTHFR and all my 3 kiddos have Heterozygous mutation for the C677T gene. Can anyone explain what this means and what kind of behaviors can it cause if any. How do we treat? All 3 of my children confirmed PANS/Lyme.

 

 

Thank you in advance!

Tami

[NancyD]

Below info from Dr. Jones' website will explain. You should see an integrated MD who knows how to treat MTHFR. You may want to check B, homocysteine, and glutathione levels. There is also a test you can take to check anti-cerebral folate abs. This is part of a research study at SUNY Medical Center. The cost is $100 (insurance will not cover). If you'd like more info on this study let me know.

 

From Dr. Jones Kids website:

"MTHFR is a common genetic variant that causes a key enzyme in the body to function at lower than normal rate.  This can lead to a variety of medical problems, when people with MTHFR are exposed to more toxins than their bodies can handle.  There are over 50 known MTHFR variants, but the two prime variants are called 677 and 1298, the numbers refer to their location on the gene.  The routine lab test for MTHFR variant only reports on 677 and 1298 as these are the most studied.  

 

"The 677 variant is associated  with early heart disease and stroke and the 1298 variant with a variety chronic illnesses.  The MTHFR is reported out as heterozygous or homozygous.  If you are heterozygous that means you have affected gene and one normal gene.  The MTHFR enzyme will run at about 55% to 70% efficiency compared to a normal MTHFR enzyme.  If you are homozygous then enzyme efficiency drops down to 7% to 10% of normal, which of course makes a huge difference."  

 

"The worst combination is 677/1298 in which you are heterozygous to both anomalies.  Many chronic illnesses are linked to this anomaly.  98% of autistic children have an MTHFR anomaly.  Fibromyalgia, irritable bowel syndrome, migraines, are all conditions associated with MTHFR anomaly." 

 

"MTHFR can make you susceptible to illness because the pathway is the primary source of glutathione production in the body.  Glutathione is the body's primary antioxidant and detoxifier.  People with MTHFR anomalies usually have low glutathione, which makes them more susceptible to stress and less tolerant to toxins."  

 

"As we age MTHFR problems get much worse due to the accumulation of toxins and the cumulative effect of oxidative stress, which ages our bodies."

 

      ~~~

 

Non mutated MTHFR is one of the leading regulatory enzymes of homocysteine metabolism.  Homocysteine metabolism is an extremely important factor of our metabolic systems. This process touches many aspects of our general health and is therefore very important. 

 

The MTHFR Mutation is a defective enzyme that hinders this process. The mutation of the MTHFR gene is directly related to hyperhomocysteinemia (high or elevated levels of homocysteine). 

 

High levels of homocysteine can be attributed to many conditions such as: 

 

The condition can lead to high rates of dementia /Alzheimer`s due to a decrease in vitamin B-12. 

 

High homocysteinemia can lead to coronary artery disease, common carotid atherosclerosis other Vascular Diseases.

 

Complications in Pregnancy Due To Neural Tube Defects. 

 

Atherosclerosis

 

Rheumatoid Arthritis

 

Downs Syndrome

 

Alcoholism

 

Osteoporosis

 

Neuropsychiatric Disorders

 

Non Insulin Dependant Diabetes

 

Early Pregnancy Loss

 

Spontaneous Abortion (Viable Fetus)

 

Placental Abruption, Low Birth Weight

 

Other Conditions

 

MTHFR mutation can be homozygous (2 copies) or heterozygous (1 copy), with more people being heterozygous and carrying only one MTHFR mutated gene. Compound heterozygous (one copy of each mutation). Homozygous, of course, can cause more issues and become more serious. 

 

It`s a fairly easy thing to test for by checking homocysteine levels in the blood. 

 

Treatment consists of simple vitamin supplements --- FolaPro L-methyl tetrahydrofolate by Metagenics, OR, 5 tetrahydrofolate or methyl folate. 

 

Longevity Plus, H.R. T. Plus with 5-tetrahydrofolate. 

 

Life Extension, optimized folate (5-MTHF).

 

OR prescriptions like:

 

*Deplin/ 7.5 mg l-methylfolate 

 

OR 

 

*Metanx-L methyl folate calcium (as Metafolin) 3 mg, Pyridoxal 5` phosphate 35 mg, methylcobalamin 2 mg. 

 

OR 

 

Methyl B-12 injections

 

The vitamin supplementation is lifelong.  After childbirth you may switch from prenatal to a women`s multivitamin.  

 

See a specialist to discuss whether you are a candidate for Lovenox.  Also, you may consider having a FULL antiphospholipid antibodies panel run. 

 

Many MTHFR patients also have Antiphospholipid Syndrome. If you have both, you are a likely candidate for Lovenox (injections of low molecular weight heparin) throughout a pregnancy to prevent clotting.

 

MTHFR mutations interfere with the body`s ability to absorb folic acid. Folic acid deficiencies for babies can cause neural tube defects like spina bifida. 

 

In addition, lack of folic acid can cause clotting-related problems. Since the teeniest, tiniest blood vessels are in the uterus, a female can have microscopic clots that don`t harm them, but cut off the blood supply to the embryo/fetus. This can cause implantation problems, m/c, or even stillbirth. So properly treating your MTHFR is critical. 

 

MTHFR is one of several different kinds of inherited thrombophilia. (Antiphospholipid Syndrome is acquired thrombophilia.) 

 

Please be sure to have your parents and siblings tested for MTHFR mutations as well. If positive, then they should discuss taking baby aspirin and additional Folgard as well (one Folgard per mutation.)  

 

During pregnancy adding extra folic acid is suggested beyond the 800 mg. 

 

Children will need a children`s multivitamin and later extra folic acid, too. 

 

There is controversy as to the importance of homocysteine levels when it comes to MTHFR mutations. 

 

MTHFR causes folic acid deficiency, which causes elevated homocysteine levels, which causes clotting problems, which causes infertility or miscarriage.

 

MTHFR causes folic acid deficiency, which causes clotting problems, which causes infertility or miscarriage which may or may not cause elevated homocysteine levels.

 

Homocysteine levels may be checked.  Homocysteine levels (particularly in young women) are not an accurate predictor of clotting troubles. 

 

Baby aspirin is a blood thinner (relatively mild). Lovenox (low molecular weight heparin) is an anticoagulant (slows clotting.) They have two very different functions in the body. Your doctor may or may not want you to use both.

 

AVOID Laughing gas/Nitrous Oxide - Nitrous oxide uses up vitamin B-12 can cause severe problems or death in people with MTHFR Disorder.

 

AVOID Bactrim DS- In pregnancy it is associated with increased incidence of cleft lip. Otherwise the system is depleted of Vitamin B-12.

 

AVOID SamE, an over the counter product as this S-adenosyl-methionine can further inhibit MTHFR.

 

C77TT is associated with an increase risk of esophageal cancer.

 

MTHFR Disorder is associated with an increased risk for postmenopausal breast cancer, schizophrenia, anxiety, bipolar disorder, migraines, and strokes.

 

It effects of seizures and medications used to treat them.

 

There is a reduced risk of non-Hodgkins lymphoma and acute lymphocytic leukemia in adults.

[Tamistwins]

Thanks so much Nancy! Still not sure where to go from here, do you know if Dr. Jones treats for this?

[NancyD]

As far as I know he doesn't do integrative medicine but perhaps others who see him can chime in. I would see an integrative MD, like a DAN doctor. What part of the country do you live?

[PowPow]

so are they finding high or low homocysteine with this mutation?

I ask as I have antiphospholipid syndrome (the acquired thrombophilia mentioned) & I do take aspirin daily & lovenox when pregnant (aspirin , too)

One of my PANDAS daughters was found to have high homocysteine . both were negative for the antiphospholipid antibodies, though they can vary and are not always present.

Thanks for including all this info, NancyD.

I believe the child with the homocysteine was checked for this mutation and was normal (none found)

[NancyD]

They are finding elevated levels with the c677t mutation. A person who is heterozygous will generally have mild increases in homocysteine levels. And a person who is homozygous will generally have high homocysteine levels. Deficiencies in B vitamins and folate can lead to increased levels of homocysteine.

 

so are they finding high or low homocysteine with this mutation?

I ask as I have antiphospholipid syndrome (the acquired thrombophilia mentioned) & I do take aspirin daily & lovenox when pregnant (aspirin , too)

One of my PANDAS daughters was found to have high homocysteine . both were negative for the antiphospholipid antibodies, though they can vary and are not always present.

Thanks for including all this info, NancyD.

I believe the child with the homocysteine was checked for this mutation and was normal (none found)

[Tamistwins]

As far as I know he doesn't do integrative medicine but perhaps others who see him can chime in. I would see an integrative MD, like a DAN doctor. What part of the country do you live?

Nancy I live in nj

[lfran]

Please post or PM me with more info on the SUNY test. DS 10 is C677T homozygous, and I would like to learn all that I can.

 

However, I want to add that since finding this out, I have been giving him methylfolate and methylguard plus, both from Thorne, and have seen two major symptoms DISAPPEAR. One is nighttime wetting and the other is his extremely high anxiety. The wetting is down to about 1 or 2% of what it had been (a couple of spots now and then) and it looks to me like his major fears are just...gone. Also just saw a research paper linking low B12 and low folate to nighttime wetting, so I am pretty excited that this suppplementation may have fixed this problem for good.

 

I will post more later, but wanted to get this info out there. PLEASE don't let me be jinxing this by posting.

 

Below info from Dr. Jones' website will explain. You should see an integrated MD who knows how to treat MTHFR. You may want to check B, homocysteine, and glutathione levels. There is also a test you can take to check anti-cerebral folate abs. This is part of a research study at SUNY Medical Center. The cost is $100 (insurance will not cover). If you'd like more info on this study let me know.

 

From Dr. Jones Kids website:

"MTHFR is a common genetic variant that causes a key enzyme in the body to function at lower than normal rate. This can lead to a variety of medical problems, when people with MTHFR are exposed to more toxins than their bodies can handle. There are over 50 known MTHFR variants, but the two prime variants are called 677 and 1298, the numbers refer to their location on the gene. The routine lab test for MTHFR variant only reports on 677 and 1298 as these are the most studied.

 

"The 677 variant is associated with early heart disease and stroke and the 1298 variant with a variety chronic illnesses. The MTHFR is reported out as heterozygous or homozygous. If you are heterozygous that means you have affected gene and one normal gene. The MTHFR enzyme will run at about 55% to 70% efficiency compared to a normal MTHFR enzyme. If you are homozygous then enzyme efficiency drops down to 7% to 10% of normal, which of course makes a huge difference."

 

"The worst combination is 677/1298 in which you are heterozygous to both anomalies. Many chronic illnesses are linked to this anomaly. 98% of autistic children have an MTHFR anomaly. Fibromyalgia, irritable bowel syndrome, migraines, are all conditions associated with MTHFR anomaly."

 

"MTHFR can make you susceptible to illness because the pathway is the primary source of glutathione production in the body. Glutathione is the body's primary antioxidant and detoxifier. People with MTHFR anomalies usually have low glutathione, which makes them more susceptible to stress and less tolerant to toxins."

 

"As we age MTHFR problems get much worse due to the accumulation of toxins and the cumulative effect of oxidative stress, which ages our bodies."

 

~~~

 

Non mutated MTHFR is one of the leading regulatory enzymes of homocysteine metabolism. Homocysteine metabolism is an extremely important factor of our metabolic systems. This process touches many aspects of our general health and is therefore very important.

 

The MTHFR Mutation is a defective enzyme that hinders this process. The mutation of the MTHFR gene is directly related to hyperhomocysteinemia (high or elevated levels of homocysteine).

 

High levels of homocysteine can be attributed to many conditions such as:

 

The condition can lead to high rates of dementia /Alzheimer`s due to a decrease in vitamin B-12.

 

High homocysteinemia can lead to coronary artery disease, common carotid atherosclerosis other Vascular Diseases.

 

Complications in Pregnancy Due To Neural Tube Defects.

 

Atherosclerosis

 

Rheumatoid Arthritis

 

Downs Syndrome

 

Alcoholism

 

Osteoporosis

 

Neuropsychiatric Disorders

 

Non Insulin Dependant Diabetes

 

Early Pregnancy Loss

 

Spontaneous Abortion (Viable Fetus)

 

Placental Abruption, Low Birth Weight

 

Other Conditions

 

MTHFR mutation can be homozygous (2 copies) or heterozygous (1 copy), with more people being heterozygous and carrying only one MTHFR mutated gene. Compound heterozygous (one copy of each mutation). Homozygous, of course, can cause more issues and become more serious.

 

It`s a fairly easy thing to test for by checking homocysteine levels in the blood.

 

Treatment consists of simple vitamin supplements --- FolaPro L-methyl tetrahydrofolate by Metagenics, OR, 5 tetrahydrofolate or methyl folate.

 

Longevity Plus, H.R. T. Plus with 5-tetrahydrofolate.

 

Life Extension, optimized folate (5-MTHF).

 

OR prescriptions like:

 

*Deplin/ 7.5 mg l-methylfolate

 

OR

 

*Metanx-L methyl folate calcium (as Metafolin) 3 mg, Pyridoxal 5` phosphate 35 mg, methylcobalamin 2 mg.

 

OR

 

Methyl B-12 injections

 

The vitamin supplementation is lifelong. After childbirth you may switch from prenatal to a women`s multivitamin.

 

See a specialist to discuss whether you are a candidate for Lovenox. Also, you may consider having a FULL antiphospholipid antibodies panel run.

 

Many MTHFR patients also have Antiphospholipid Syndrome. If you have both, you are a likely candidate for Lovenox (injections of low molecular weight heparin) throughout a pregnancy to prevent clotting.

 

MTHFR mutations interfere with the body`s ability to absorb folic acid. Folic acid deficiencies for babies can cause neural tube defects like spina bifida.

 

In addition, lack of folic acid can cause clotting-related problems. Since the teeniest, tiniest blood vessels are in the uterus, a female can have microscopic clots that don`t harm them, but cut off the blood supply to the embryo/fetus. This can cause implantation problems, m/c, or even stillbirth. So properly treating your MTHFR is critical.

 

MTHFR is one of several different kinds of inherited thrombophilia. (Antiphospholipid Syndrome is acquired thrombophilia.)

 

Please be sure to have your parents and siblings tested for MTHFR mutations as well. If positive, then they should discuss taking baby aspirin and additional Folgard as well (one Folgard per mutation.)

 

During pregnancy adding extra folic acid is suggested beyond the 800 mg.

 

Children will need a children`s multivitamin and later extra folic acid, too.

 

There is controversy as to the importance of homocysteine levels when it comes to MTHFR mutations.

 

MTHFR causes folic acid deficiency, which causes elevated homocysteine levels, which causes clotting problems, which causes infertility or miscarriage.

 

MTHFR causes folic acid deficiency, which causes clotting problems, which causes infertility or miscarriage which may or may not cause elevated homocysteine levels.

 

Homocysteine levels may be checked. Homocysteine levels (particularly in young women) are not an accurate predictor of clotting troubles.

 

Baby aspirin is a blood thinner (relatively mild). Lovenox (low molecular weight heparin) is an anticoagulant (slows clotting.) They have two very different functions in the body. Your doctor may or may not want you to use both.

 

AVOID Laughing gas/Nitrous Oxide - Nitrous oxide uses up vitamin B-12 can cause severe problems or death in people with MTHFR Disorder.

 

AVOID Bactrim DS- In pregnancy it is associated with increased incidence of cleft lip. Otherwise the system is depleted of Vitamin B-12.

 

AVOID SamE, an over the counter product as this S-adenosyl-methionine can further inhibit MTHFR.

 

C77TT is associated with an increase risk of esophageal cancer.

 

MTHFR Disorder is associated with an increased risk for postmenopausal breast cancer, schizophrenia, anxiety, bipolar disorder, migraines, and strokes.

 

It effects of seizures and medications used to treat them.

 

There is a reduced risk of non-Hodgkins lymphoma and acute lymphocytic leukemia in adults.

Edited May 22, 2012 by lfran

[LNN]

My DD7 is heterozygous C677T as well. The treatment for this is lifelong supplementation with methylfolate. Most of us take a multivitamin or eat cereal fortified with folate. Or when pregnant, we're told to take extra folate, as a deficiency is associated with neural tube defects in developing babies. For people with this genetic mutation, our bodies can't convert the folate in the mutlivitamin/cereal/other foods properly. So depending on how severe the mutation is (if you're hetero vs homozygous), your body can only use 50-70% of the folate in your body (if you're heterozygous) or as little as 10% of the available folate (if you're homozygous).

 

The body turns folate into methylfolate. Methylfolate, in combination with B12, converts homocysteine back into something called methionine, which is then converetd into ATP (cell energy) and SAMe (which leads to seratonin). This is a circle - one things converts into another over and over. It's called the methylation cycle.

 

Without methylfolate, not only does your body not recycle homocysteine, it also doesn't make this methylation cycle turn very well, thus reducing your body's energy and seratonin. The build up of homocysteine leads to heart disease, stroke, macular degeneration and a host of other issues. Here's a good overview that's easy to understand http://www.lef.org/protocols/heart_circulatory/homocysteine_reduction_01.htm And as Nancy said, an increase in homocysteine can also lead to a deficiency in raw materials needed to make glutathione - the king of antioxidants that help your body shed damaged cells and toxins.

 

So all in all, high homocysteine and low amounts of bio-available methylfolate is a bad thing for many reasons. When you have this gene mutation (the gene is called MTHFR and the mutation I'm talking about is the C677T - the A1298 has different implications) - the treatment is to supplement with methylfolate - a type of folate that's been pre-converted - or methylated- into what's needed to complete the methylation cycle.

 

When you first start, you want to start slow. Think of a dam of water that's built up. You don't want to open the flood gates. You first want to start a slow drain. So for my DD7 who's 47 lbs and has neuropsych symptoms, we started at 200mcg of methylfolate and did this for 2 weeks. Because it's hard to find such a low dose, we bought Amy Yasko's liquid methylfolate called methylmate (http://www.holisticheal.com/methylmate-b-nutritional-supplement.html) We built up to 3 drops and now when the bottle is gone, we'll switch to a pill in the 800mcg range. Once my DD had been supplementing for about a month, she felt better - the mood swings stopped. But she was still complaining of periodic fatigue. So we added the methyl form of B12, aka methylcobalmin. Together, the methylfolate and methylB12 help her efficiently complete the methylation cycle, helping the body create cell energy, seratonin and reduce/recycle homocysteine.

 

Our LLMD understands methylation and helped us do the testing and discussed our plan. But some of this I've done on myself as well, as the gene likely comes from me but I don't have a supportive doctor to do testing (that's in the list once we get the kids out of treatment). I think for our kids, who have infection as well as a high probability of having "broken" systems such as methylation etc, having an integrative doc on board to help is a really really good idea. But if it's just impractical, I think you can read up and do some things on your own, so long as you take it slow and balance things. Too much of any single supplement can cause problems of its own.

 

Tami - I'll PM you the name of an integrative in southern CT who knows this stuff inside and out.

Edited May 22, 2012 by LLM

[LNN]

Tami - your inbox says you can't accept messages.

[lfran]

Thanks for all the info!

 

A quick follow up on the SUNY test -- is it something other than the DNA test showing the MTHFR DNA? When I looked for it online, that's what it seemed like to me. We had that done via Labcorp, through insurance, so I thought the SUNY test might be something different.

 

-- lfran

My DD7 is heterozygous C677T as well. The treatment for this is lifelong supplementation with methylfolate. Most of us take a multivitamin or eat cereal fortified with folate. Or when pregnant, we're told to take extra folate, as a deficiency is associated with neural tube defects in developing babies. For people with this genetic mutation, our bodies can't convert the folate in the mutlivitamin/cereal/other foods properly. So depending on how severe the mutation is (if you're hetero vs homozygous), your body can only use 50-70% of the folate in your body (if you're heterozygous) or as little as 10% of the available folate (if you're homozygous).

 

The body turns folate into methylfolate. Methylfolate, in combination with B12, converts homocysteine back into something called methionine, which is then converetd into ATP (cell energy) and SAMe (which leads to seratonin). This is a circle - one things converts into another over and over. It's called the methylation cycle.

 

Without methylfolate, not only does your body not recycle homocysteine, it also doesn't make this methylation cycle turn very well, thus reducing your body's energy and seratonin. The build up of homocysteine leads to heart disease, stroke, macular degeneration and a host of other issues. Here's a good overview that's easy to understand http://www.lef.org/protocols/heart_circulatory/homocysteine_reduction_01.htm And as Nancy said, an increase in homocysteine can also lead to a deficiency in raw materials needed to make glutathione - the king of antioxidants that help your body shed damaged cells and toxins.

 

So all in all, high homocysteine and low amounts of bio-available methylfolate is a bad thing for many reasons. When you have this gene mutation (the gene is called MTHFR and the mutation I'm talking about is the C677T - the A1298 has different implications) - the treatment is to supplement with methylfolate - a type of folate that's been pre-converted - or methylated- into what's needed to complete the methylation cycle.

 

When you first start, you want to start slow. Think of a dam of water that's built up. You don't want to open the flood gates. You first want to start a slow drain. So for my DD7 who's 47 lbs and has neuropsych symptoms, we started at 200mcg of methylfolate and did this for 2 weeks. Because it's hard to find such a low dose, we bought Amy Yasko's liquid methylfolate called methylmate (http://www.holisticheal.com/methylmate-b-nutritional-supplement.html) We built up to 3 drops and now when the bottle is gone, we'll switch to a pill in the 800mcg range. Once my DD had been supplementing for about a month, she felt better - the mood swings stopped. But she was still complaining of periodic fatigue. So we added the methyl form of B12, aka methylcobalmin. Together, the methylfolate and methylB12 help her efficiently complete the methylation cycle, helping the body create cell energy, seratonin and reduce/recycle homocysteine.

 

Our LLMD understands methylation and helped us do the testing and discussed our plan. But some of this I've done on myself as well, as the gene likely comes from me but I don't have a supportive doctor to do testing (that's in the list once we get the kids out of treatment). I think for our kids, who have infection as well as a high probability of having "broken" systems such as methylation etc, having an integrative doc on board to help is a really really good idea. But if it's just impractical, I think you can read up and do some things on your own, so long as you take it slow and balance things. Too much of any single supplement can cause problems of its own.

 

Tami - I'll PM you the name of an integrative in southern CT who knows this stuff inside and out.

[smartyjones]

for those in the know -- how much of a mainstream medicine concept is this? i have an appt with ped tomorrow to discuss testing -- he is generally open and a good member of our team, although not the person who 'treats' pandas. i'm trying to get it through him so more likely for insur coverage but curious if you can give me an idea of how out there it might be -- keep in mind, we treat with homeopathy -- so i'm okay with different paths and perceptions -- just trying to get an idea of where it might be. thanks.

[Tamistwins]

My DD7 is heterozygous C677T as well. The treatment for this is lifelong supplementation with methylfolate. Most of us take a multivitamin or eat cereal fortified with folate. Or when pregnant, we're told to take extra folate, as a deficiency is associated with neural tube defects in developing babies. For people with this genetic mutation, our bodies can't convert the folate in the mutlivitamin/cereal/other foods properly. So depending on how severe the mutation is (if you're hetero vs homozygous), your body can only use 50-70% of the folate in your body (if you're heterozygous) or as little as 10% of the available folate (if you're homozygous).

 

The body turns folate into methylfolate. Methylfolate, in combination with B12, converts homocysteine back into something called methionine, which is then converetd into ATP (cell energy) and SAMe (which leads to seratonin). This is a circle - one things converts into another over and over. It's called the methylation cycle.

 

Without methylfolate, not only does your body not recycle homocysteine, it also doesn't make this methylation cycle turn very well, thus reducing your body's energy and seratonin. The build up of homocysteine leads to heart disease, stroke, macular degeneration and a host of other issues. Here's a good overview that's easy to understand http://www.lef.org/protocols/heart_circulatory/homocysteine_reduction_01.htm And as Nancy said, an increase in homocysteine can also lead to a deficiency in raw materials needed to make glutathione - the king of antioxidants that help your body shed damaged cells and toxins.

 

So all in all, high homocysteine and low amounts of bio-available methylfolate is a bad thing for many reasons. When you have this gene mutation (the gene is called MTHFR and the mutation I'm talking about is the C677T - the A1298 has different implications) - the treatment is to supplement with methylfolate - a type of folate that's been pre-converted - or methylated- into what's needed to complete the methylation cycle.

 

When you first start, you want to start slow. Think of a dam of water that's built up. You don't want to open the flood gates. You first want to start a slow drain. So for my DD7 who's 47 lbs and has neuropsych symptoms, we started at 200mcg of methylfolate and did this for 2 weeks. Because it's hard to find such a low dose, we bought Amy Yasko's liquid methylfolate called methylmate (http://www.holisticheal.com/methylmate-b-nutritional-supplement.html) We built up to 3 drops and now when the bottle is gone, we'll switch to a pill in the 800mcg range. Once my DD had been supplementing for about a month, she felt better - the mood swings stopped. But she was still complaining of periodic fatigue. So we added the methyl form of B12, aka methylcobalmin. Together, the methylfolate and methylB12 help her efficiently complete the methylation cycle, helping the body create cell energy, seratonin and reduce/recycle homocysteine.

 

Our LLMD understands methylation and helped us do the testing and discussed our plan. But some of this I've done on myself as well, as the gene likely comes from me but I don't have a supportive doctor to do testing (that's in the list once we get the kids out of treatment). I think for our kids, who have infection as well as a high probability of having "broken" systems such as methylation etc, having an integrative doc on board to help is a really really good idea. But if it's just impractical, I think you can read up and do some things on your own, so long as you take it slow and balance things. Too much of any single supplement can cause problems of its own.

 

Tami - I'll PM you the name of an integrative in southern CT who knows this stuff inside and out.

Thanks I'll look into emptying inbox!

[LNN]

The idea of methylation and the C677T/A1296 mutations are VERY mainstream. Do a search on PubMed and you get tons of hits. There's no controversy on what methylation does or whether these mutations exist or cause the issues that are listed here and in the links.

 

What you will more likely find is ignorance. Nearly every doctor will know why high homocysteine is bad. Few will know that taking methylfolate is part of the solution. Even fewer will know the connection between homocysteine and glutathione or seratonin. It's just a symptom of the poor training docs get in connecting the dots and looking at the body as one intergrated system. Instead, they're taught to use heart meds for high homocysteine. I sometimes feel likes it's big pharma writing the med school curriculum.

 

But the MTHFR test is very mainstream. Here's the Quest lab # to order http://www.questdiagnostics.com/testcenter/OrderInfo.action?fn=36165.html&labCode=NEL

When we ran it, the insurance negotiated rate was $50 and since we'd met our deductible, our out of pocket was 20% or $10.

[JAG10]

Hi friends,

 

A couple of questions because I'm so easily confused by all of this.

 

Lfran- why both methylfolate and methylguard plus?

 

Why does Dr. Jones recommend regular multivitamins or regular folic acid if those with mutation can't concert it?

 

Michael Tampa- Were you the one who posted that supplementation is NOT lifelong? That muscle testing indicated you needed methylfolate and then no longer did? How do you monitor that without muscle testing? Any danger to taking it when you don't need it or just pee it out/waste of $$ risk only?

 

Thanks!