MTHFR gene defect - anyone familiar?

[Mermaid's Mom]

We saw a Naturopath today and I learned all about this and we are now currently treating my daughter for it.  It was a LOT of info but I will give you the jist of what I understood (very over-simplified) from the meeting.  I would love any additional info as well feel free to clear up anything I seemed to have misunderstood.

For starters it was lovely to have a person who was willing to see the WHOLE picture.

I gave her the full chronological history, all diagnosis's and all current supplements.   She explained that there is a gene MTHFR.  We all have it and some people have one that is very effective and some have one that is slow.  That it is directly related to 5 systems (the sensory system is one, then digestive, neurology etc).  These 5 systems all work together like clock gears.  If one gear is wonky they all get impacted.  You begin to see things go wrong potentially from all the systems.  So sensory issues, anxiety, brain fog, constipation etc.  MTHFR gene has a direct impact on the processing of the B's (B12, B9, B6).  She said that even if there is no B12 deficiency in bloodwork people with this deficiency still require B12 (myelinated!!!) supplements because they don't effectively process B's.  Once this derails (meaning it goes undiagnosed) that B deficiency starts to impact those 5 systems.

Oh and there is a genetic component.  Many people (50%?) have a defective MTHFR gene but many will have no symptoms.  The severity of the symptoms can be from mild to severe. 

She says all grains are anti-inflammatory so we now need to follow a Paleo diet and she tweaked our supplements.

The B12 we were using was not myelinated so we bought one that is.  She swapped our Magnesium Citrate to Mag Glycinate.  Kept our Probiotic and Omega 3 but added in an E8 (all 8 types of Vit E) and Cod fish oil. 

It was super interesting and now I wonder if Gluten Ataxia and MTHFR are the same issue??

Any thoughts?

 

[Scuff]

I had the testing last year and my dr found that I have both defective genes for 677. But, he kinda dropped it after that and I never really understood what it all means. 

[Mermaid's Mom]

  On 5/2/2017 at 12:11 AM, Scuff said:

I had the testing last year and my dr found that I have both defective genes for 677. But, he kinda dropped it after that and I never really understood what it all means. 

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You should REALLY start to investigate it again!

 

[pikakegirl]

Thank you for sharing. Just planning on seeing a Naturopath. Am  positive for the gene and have neurological issues, pain with repetitive movement in C and T-spine. Taking 3000mcg L-methylfolate daily is helping. Going backward since I stopped 3 years of gabapentin. Not sure if it is withdrawal or my normal pain episodes since only 1.5 months since off. Can not tolerate any b vitamins or E vitamins they make me super depressed. Can not tolerate any magnesium, causes severe gastrointestinal distress. Have tried grain free with no change. Please keep posting your results this info helps.

[bees]

Yes.  I have had the testing done and have several mutations, but the big one for me is the C677T.  What Ive learned is that I cannot take NSAIDs (can't metabolize them - they were slowing killing my kidneys and gave me incrediblly bad pins and needles sensations).

 I also have problems metabolizing B vitamins, like you mentioned (it should also be noted you should try to avoid folic acid and take folate instead).  They stay in my blood steam causing my labs to read high - where I really am deficient, and need to take the methalation versions.  Most doctors aren't fully informed with MTHFR, so they'll tell you to avoid B supplements in these cases.   

We are also investigating histamine intolerance.  If my hives aren't caused by gluten, it is believed this could be my issue for my chronic hives and itching.  

[Mermaid's Mom]

  On 5/2/2017 at 12:22 AM, pikakegirl said:

Thank you for sharing. Just planning on seeing a Naturopath. Am  positive for the gene and have neurological issues, pain with repetitive movement in C and T-spine. Taking 3000mcg L-methylfolate daily is helping. Going backward since I stopped 3 years of gabapentin. Not sure if it is withdrawal or my normal pain episodes since only 1.5 months since off. Can not tolerate any b vitamins or E vitamins they make me super depressed. Can not tolerate any magnesium, causes severe gastrointestinal distress. Have tried grain free with no change. Please keep posting your results this info helps.

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Will do absolutely!  She said my daughter needs to be wheat, barley, rye, oat, corn, rice, quinoa and dairy free.  Do you still consume any of those?

 

[kareng]

You are treating your child for a serious & rare genetic illness with no gene testing?

 

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[artistsl]

Interesting. My son experiences neurological and psychiatric issues caused by gluten yet he tested negative for celiacs. He also tested negative for B vitamin deficiency. Despite testing negative for celiacs I decided to place him on a gluten and dairy free diet. His symptoms improved 95%. I started giving him B12 supplement despite testing negative for deficiency and he has improved yet again. I also have him on a 14 strain probiotic. Are there any other supplements that you guys recommend besides B12? I'm just winging it here. We've traveled to Boston and Rochester and no doctors have been able to help us with an explanation or diagnosis so I lean on your knowledge and experience. Thanks in advance. 

[Mermaid's Mom]

I was LITERALLY just replying to your post on the Gluten Ataxia thread to suggest that you look into MTHFR!!  The biggest thing that caught my eye is that you mentioned thyroid and MTHFR is a thyroid condition!!

[Mermaid's Mom]

  On 5/2/2017 at 12:24 PM, artistsl said:

Interesting. My son experiences neurological and psychiatric issues caused by gluten yet he tested negative for celiacs. He also tested negative for B vitamin deficiency. Despite testing negative for celiacs I decided to place him on a gluten and dairy free diet. His symptoms improved 95%. I started giving him B12 supplement despite testing negative for deficiency and he has improved yet again. I also have him on a 14 strain probiotic. Are there any other supplements that you guys recommend besides B12? I'm just winging it here. We've traveled to Boston and Rochester and no doctors have been able to help us with an explanation or diagnosis so I lean on your knowledge and experience. Thanks in advance. 

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sorry double post

 

[Mermaid's Mom]

  On 5/2/2017 at 12:17 PM, kareng said:

You are treating your child for a serious & rare genetic illness with no gene testing?

 

Open Original Shared Link

 

 

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Who said I wasn't going to get the gene testing??  Right now she is on a Paleo diet and some supplements I am not exactly pushing the limits of science here or branching off into dark magic?? LOL!

[Mermaid's Mom]

Also - pulling a quote of yours over from the other post - you said:  I just recently started giving him vitamin B12 (thank you posterboy for sharing info on this topic). Despite his bloodwork not showing B vitamin deficiency, that seems to be helping with those very minor lingering symptoms. Hoping that's not a placebo affect.

And in fact my Naturopath directly addressed this even though my daughters B12 was only slightly low (as per medical standards) she said:  Even if her bloodwork revealed that she WASN'T deficient we still have to give methlyenated  B12 because the body still needs it.  Essentially the B12 may BE THERE (in the body) but the MTHFR gene directly affects the methylation system.  Otherwise known as the B system (B12, B9, B6).  So the right type of B12 is vital for success!

[Mermaid's Mom]

My understanding of this gene defect is that MANY people would test as having the gene defect.  But not everyone would have any problems.   The severity of the issues is the result of HOW damaged the gene is.  So I could go in and test as having a MTHFR gene defect but my gene is still performing at 97% and who really cares.

My daughter's however might only be "performing" at 30% hence why she is having issues in EVERY one of those systems.  Diet is the only way to scaffold wait the gene fails to do naturally.

Someone who defective gene is performing at 75% may only present as having ADHD.  Yes she is another person who doesn't believe in ADHD.  She says it is the result of MTHFR defect.

If both parents are carriers you get the chance of a more serious impact.

[ravenwoodglass]

  On 5/2/2017 at 2:27 PM, Mermaid's Mom said:

My understanding of this gene defect is that MANY people would test as having the gene defect.  But not everyone would have any problems.   The severity of the issues is the result of HOW damaged the gene is.  So I could go in and test as having a MTHFR gene defect but my gene is still performing at 97% and who really cares.

My daughter's however might only be "performing" at 30% hence why she is having issues in EVERY one of those systems.  Diet is the only way to scaffold wait the gene fails to do naturally.

Someone who defective gene is performing at 75% may only present as having ADHD.  Yes she is another person who doesn't believe in ADHD.  She says it is the result of MTHFR defect.

If both parents are carriers you get the chance of a more serious impact.

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Have they checked her homocistine levels?  If she is impacted by the defect those levels would be abnormal.

[Mermaid's Mom]

  On 5/2/2017 at 2:37 PM, ravenwoodglass said:

Have they checked her homocistine levels?  If she is impacted by the defect those levels would be abnormal.

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Going to the Dr today to get her B12 shot and find out next steps.

 

[artistsl]

I need to touch base with our neurologist at Mayo to see whether he tested homocysteine. Do you know whether that was performed through bloodwork? We traveled to Boston to enroll in a research study looking at genetics of schizophrenia. The doctor who enrolled us advised that we continue to go gluten free. The mechanisms are not understood, but the removal of gluten from the diet is thought to alleviate some kind of inflammatory response. Mermaids Mom, does your daughter have thyroid issues? Has she recovered from her neuro issues after having gone gluten free? 

[Mermaid's Mom]

  On 5/2/2017 at 3:23 PM, artistsl said:

I need to touch base with our neurologist at Mayo to see whether he tested homocysteine. Do you know whether that was performed through bloodwork? We traveled to Boston to enroll in a research study looking at genetics of schizophrenia. The doctor who enrolled us advised that we continue to go gluten free. The mechanisms are not understood, but the removal of gluten from the diet is thought to alleviate some kind of inflammatory response. Mermaids Mom, does your daughter have thyroid issues? Has she recovered from her neuro issues after having gone gluten free? 

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We have never checked thyroid or homocysteine levels.  My mother in law has thyroid issues and there was some speculation that I did as a child so it is VERY possible.  It's been on my mind but with kids like this the temptation is to check everything! LOL  I would run every thing known to man but I have to work around a kid who has been tested to DEATH so I pick and choose my battles.  No red flags for any thyroid issues so I have focused on other things. 

In terms of her Neurological Issues - OMG I want to say that we literally CURED her.  After only 4 weeks she was a different child.  The improvement was as extreme as you describe.  Then we slid on the dairy and we  lost it ALL.  Literally all of it. 

 

[pikakegirl]

  On 5/2/2017 at 12:25 AM, Mermaid's Mom said:

Will do absolutely!  She said my daughter needs to be wheat, barley, rye, oat, corn, rice, quinoa and dairy free.  Do you still consume any of those?

 

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Only brown rice, My inflamation and blood work are perfect. When I ate quinoa my CRP rose. I do not eat processed foods. Have Hashimotos. Also take a k2 supplement when I noticed bruising that healed slow. Was Unable to take b12 because if gabapentin cross reaction, headaches but stopped gabapentin. Am trying b12 again. Will find a e8 as well. Muscle pain back with vengeance. Had thought the foliate fixed it. Cannot tolerate folic acid foods at all or magnesium rich foods.

[Gemini]

Mermaid's Mom........I do not think that the MTHFR gene is responsible for all the problems your daughter is having.  I have been tested for this because my homocysteine levels were ever so slightly elevated by 2 points over normal and my MD, not a naturopath, wanted to know if I had a mutation on this because it does interfere with your body's ability to utilize the B's....most notably B12.  MY B12 levels were in the normal range but not as optimal as she would like. Turns out I did have a mutation and now use methylated B's.  However, the report stated that the mutation I had was not responsible for elevated homocysteine levels but for the record, I still use methylated B's because it can't hurt. You are correct in that many people will have some form of mutation but most will never be bothered by it.  I caution using a naturopath for such important testing because many tend to over-blow the effects of certain tests so they can sell you a bunch of supplements.

I also question any one telling an adult and especially a child not to eat grains.  I know there is this anti-grain thing going on but grains are NOT inflammatory to all people.  I have the mutation and eat grains of all kinds regularly and I am not a walking bag of symptoms.  I am doing fine and attribute that to a strict gluten-free diet and healing after 12 years gluten-free, not to mention the exercise I do regularly. I think you need to have your daughter eat gluten free only and only remove other foods if there is a clear problem with them after ingestion.  I think you said she has problems with dairy, which is normal for the newly diagnosed Celiac. But taking too much out of her diet all at once will not give clear answers to which foods may be a problem....if there is even a problem. All of your daughter's symptoms can be attributed to Celiac Disease alone so going slow with what you take out of her diet is kind of important.  I know you have stated she is a different person after eating gluten-free/df for a month so that should tell you to continue on that alone because it is going to take at least a year before she is at her new normal. Yes, diabetics have grain issues but it is different for everyone. Taking that big of a food group out of her diet is not the wisest thing that naturopath told you, especially as she is still young and growing. Gluten ataxia is from eating gluten if you have Celiac, not from other gluten-free grains........

I think if you want to pursue any of the genetic stuff, you need to go to an MD who specializes in it because genetics is so complicated. A naturopath is not qualified to do this. I would also just stick to the gluten-free/df diet for now and realize that there will be ups and downs to it until healing is well under way. I am only trying to caution you against practitioner's who go overboard with stuff and can complicate things that don't need to be. I know you are excited to finally have some answers for your daughter but I really think that going gluten-free/df is going to make big differences, over time. Many times, the MTHFR gene affects are overblown.

 

[cyclinglady]

I am a member who has extremely elevated levels of b-12 and folate.  My doctor was not concerned, so I did a little research.  I concluded that I did not have cancer which is one of the reasons for such an elevation.    What I discovered was that because I was lactose intolerant due to celiac disease,  I had been consuming soymilk that was fortified with b-12 (good I suppose for vegans).  It took a year of not supplementing with anything (even in processed foods) for those levels to drop back into the normal range.  

MTHFR?  Yeah, I researched that as well.  But you know there is an issue when you google and everything comes up with a blog or a site that SELLS you something.  Are scientists looking at the MTHFR gene?  Yes, but so far not much has been found.  More research is needed.  This article says pretty much what I want to say about the subject:

Open Original Shared Link

I have not had much genetic testing (beside Thalassemia and some genetic counseling while I was attempting to get pregnant at an old age!), but what I learned about the MRHTR gene is that if you have it, there is not enough science to support any treatment.  

What I found is that simple Whole Foods is best for me.  I take NO supplements.    I eat foods that are varied and full of nutrients.  No need to take b-12, for example, unless you are not getting this in your diet.  Guess what?  It is already methylated!    What about celiac damage?  If you master the gluten-free diet and heal, you should be able to absorb your nutrients with time unless you are SEVERELY malnourished (and probably then you should be hospitalized). 

I applaud that you are working hard to find solutions for your children.  I would do the same.  Just be careful.  Reading articles online does not make you a scientist or doctor.  Feeding them wholesome foods that our grandparents fed their children, can not hurt.  I am glad you are seeing benefits!  

[Mermaid's Mom]

  On 5/2/2017 at 5:54 PM, Gemini said:

Mermaid's Mom........I do not think that the MTHFR gene is responsible for all the problems your daughter is having.  I have been tested for this because my homocysteine levels were ever so slightly elevated by 2 points over normal and my MD, not a naturopath, wanted to know if I had a mutation on this because it does interfere with your body's ability to utilize the B's....most notably B12.  MY B12 levels were in the normal range but not as optimal as she would like. Turns out I did have a mutation and now use methylated B's.  However, the report stated that the mutation I had was not responsible for elevated homocysteine levels but for the record, I still use methylated B's because it can't hurt. You are correct in that many people will have some form of mutation but most will never be bothered by it.  I caution using a naturopath for such important testing because many tend to over-blow the effects of certain tests so they can sell you a bunch of supplements.

I also question any one telling an adult and especially a child not to eat grains.  I know there is this anti-grain thing going on but grains are NOT inflammatory to all people.  I have the mutation and eat grains of all kinds regularly and I am not a walking bag of symptoms.  I am doing fine and attribute that to a strict gluten-free diet and healing after 12 years gluten-free, not to mention the exercise I do regularly. I think you need to have your daughter eat gluten free only and only remove other foods if there is a clear problem with them after ingestion.  I think you said she has problems with dairy, which is normal for the newly diagnosed Celiac. But taking too much out of her diet all at once will not give clear answers to which foods may be a problem....if there is even a problem. All of your daughter's symptoms can be attributed to Celiac Disease alone so going slow with what you take out of her diet is kind of important.  I know you have stated she is a different person after eating gluten-free/df for a month so that should tell you to continue on that alone because it is going to take at least a year before she is at her new normal. Yes, diabetics have grain issues but it is different for everyone. Taking that big of a food group out of her diet is not the wisest thing that naturopath told you, especially as she is still young and growing. Gluten ataxia is from eating gluten if you have Celiac, not from other gluten-free grains........

I think if you want to pursue any of the genetic stuff, you need to go to an MD who specializes in it because genetics is so complicated. A naturopath is not qualified to do this. I would also just stick to the gluten-free/df diet for now and realize that there will be ups and downs to it until healing is well under way. I am only trying to caution you against practitioner's who go overboard with stuff and can complicate things that don't need to be. I know you are excited to finally have some answers for your daughter but I really think that going gluten-free/df is going to make big differences, over time. Many times, the MTHFR gene affects are overblown.

 

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I appreciate ALL your words of caution.  Sometimes I forget that the internet doesn't *know* my personality and only calculates who I am based on what I type.   After 3 years of being on this journey and countless "well that didn't work" therapies and medical opinions I really don't find myself jumping up and down yelling EUREKA!  anymore when someone else gives me yet again, another opinion.  Am I confident that we have cracked the code of my daughters issues - not at all. 

But I do LOVE going down the going down the rabbit hole and get excited about new ideas and making connections to things I already understand.  I have a brain that loves to learn and be challenged and information like this excites me in general.  And I am always open to the possibilities.  I still believe in Mermaids   But what I DO feel confident about now is that my daughters issues are mostly related to diet but probably originated in DNA.   I  do think that gluten-free/DF has helped a lot and I am curious to see WHERE Paleo can take us.  I am not saying she will Paleo for life.  But I am not saying she won't be.  We will make decisions as we go and discuss reintroducing things as time passes.  It's all very loosey goose and I know that doesn't always work for some people.       We will not be getting a Naturopath to do genetic testing!!  In fact we may not test for it at all.  It is a yes or no test and that is sort or irrelevant to me.  Many people have a yes and no issues.  It is the severity of how defective the gene is that matters and there is no test for that.  But thanks for your input

[Mermaid's Mom]

  On 5/2/2017 at 6:36 PM, cyclinglady said:

I am a member who has extremely elevated levels of b-12 and folate.  My doctor was not concerned, so I did a little research.  I concluded that I did not have cancer which is one of the reasons for such an elevation.    What I discovered was that because I was lactose intolerant due to celiac disease,  I had been consuming soymilk that was fortified with b-12 (good I suppose for vegans).  It took a year of not supplementing with anything (even in processed foods) for those levels to drop back into the normal range.  

MTHFR?  Yeah, I researched that as well.  But you know there is an issue when you google and everything comes up with a blog or a site that SELLS you something.  Are scientists looking at the MTHFR gene?  Yes, but so far not much has been found.  More research is needed.  This article says pretty much what I want to say about the subject:

Open Original Shared Link

I have not had much genetic testing (beside Thalassemia and some genetic counseling while I was attempting to get pregnant at an old age!), but what I learned about the MRHTR gene is that if you have it, there is not enough science to support any treatment.  

What I found is that simple Whole Foods is best for me.  I take NO supplements.    I eat foods that are varied and full of nutrients.  No need to take b-12, for example, unless you are not getting this in your diet.  Guess what?  It is already methylated!    What about celiac damage?  If you master the gluten-free diet and heal, you should be able to absorb your nutrients with time unless you are SEVERELY malnourished (and probably then you should be hospitalized). 

I applaud that you are working hard to find solutions for your children.  I would do the same.  Just be careful.  Reading articles online does not make you a scientist or doctor.  Feeding them wholesome foods that our grandparents fed their children, can not hurt.  I am glad you are seeing benefits!  

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This statement:  know there is an issue when you google and everything comes up with a blog or a site that SELLS you something.

Is exactly what my Dr touched on when I spoke to her today.  Worth noting the Naturopath isn't trying to sell me anything (other than the supplements we are already on) and really only advised that I put her on a Paleo diet and sit back and watch.  I do feel the supplements are a *right now* item that will be phased out so that sits fine with me. 

So in a nutshell,  I find the idea of the defective gene incredible and even promising, but if the *fix* was some high-priced isogenic meal plan flown in from Madagascar I would have kept on walking.  The fact that eating Paleo is the advice given (and we have seen that she can improve from diet) makes it something I am more than happy to get on board with just to see what happens!  Why not? My other option is to watch her decline. 

But I am as skeptical/hopeful about this solution as I was about Vision therapy, Astronaut therapy, therapeutic listening etc, etc.  Some we tried for s$#&s and giggles  and some we scrunched our faces up and kept our $$ in our wallets.

[Feeneyja]

Just a note about grain free - we ended up going grain free for my daughter this year to treat SIBO. Absolutely necessary. I have also wondered/been concerned about how gluten free all of these gluten free foods and grains are. 20 ppm several times a day adds up. Cross contamination is a problem. Even Bob's Red Mill recalls their gluten-free flours periodically because they test over 20ppm. Remember Cheerios last year?  

I have found my daughter to be very sensitive and we have done best with whole foods, limited grains (tiny bit of jasmine rice periodically).  I listened to an interesting interview by Dr. Hadjivassilou, expert on gluten ataxia, and he stated that those with neurological problems linked to gluten tend to be more sensitive to smaller amounts of gluten and so a grain free whole foods diet is what they recommend in his ataxia clinic. Even Dr. Fasano has the "Fasano Diet" for patients that are not healing just gluten free. It is grain free with the exception of some rice, whole foods. 

So grain free is not all bad, sometimes the best thing that can be done.  Each person is different. 

[Gemini]

  On 5/2/2017 at 6:51 PM, Mermaid's Mom said:

So in a nutshell,  I find the idea of the defective gene incredible and even promising, but if the *fix* was some high-priced isogenic meal plan flown in from Madagascar I would have kept on walking.  The fact that eating Paleo is the advice given (and we have seen that she can improve from diet) makes it something I am more than happy to get on board with just to see what happens!  Why not? My other option is to watch her decline. 

But I am as skeptical/hopeful about this solution as I was about Vision therapy, Astronaut therapy, therapeutic listening etc, etc.  Some we tried for s$#&s and giggles  and some we scrunched our faces up and kept our $$ in our wallets.

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Oh, my.... I love your sense of humor!!!!! 

I think you will be surprised at how much can be attributed to undiagnosed Celiac.  The effects on your gut and neuro systems are mind boggling. Like I have said before, you really must wait at least a year, especially for neuro issues, for major improvements to show themselves. Small victories will happen along the way but when you look back a year from now, you may be floored at how many of her problems were just from gluten consumption alone.  It certainly blew me away!

[Gemini]

  On 5/2/2017 at 7:35 PM, Feeneyja said:

Just a note about grain free - we ended up going grain free for my daughter this year to treat SIBO. Absolutely necessary. I have also wondered/been concerned about how gluten free all of these gluten free foods and grains are. 20 ppm several times a day adds up. Cross contamination is a problem. Even Bob's Red Mill recalls their gluten-free flours periodically because they test over 20ppm. Remember Cheerios last year?  

I have found my daughter to be very sensitive and we have done best with whole foods, limited grains (tiny bit of jasmine rice periodically).  I listened to an interesting interview by Dr. Hadjivassilou, expert on gluten ataxia, and he stated that those with neurological problems linked to gluten tend to be more sensitive to smaller amounts of gluten and so a grain free whole foods diet is what they recommend in his ataxia clinic. Even Dr. Fasano has the "Fasano Diet" for patients that are not healing just gluten free. It is grain free with the exception of some rice, whole foods. 

So grain free is not all bad, sometimes the best thing that can be done.  Each person is different. 

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I am a very sensitive Celiac and did not have any problems with many of the certified gluten-free foods. I have used Bob's Red Mill on occasion and never had a problem. If all of these foods were so contaminated, none of us would ever heal.  I am not saying it does not happen but I think the problem is way over blown. Some of us need to eat grains for weight gain. If I stop eating grains, I lose weight and feel crummy. I am one of those who feel better on grains but I also work out hard in the gym and find it made all the difference in how I felt.  I have more energy too.  The diet that Dr. Fasano worked on is not followed by the vast majority of Celiac's because many do heal being just gluten free.  There are other factors that play into healing besides what you put in your mouth.

I think for most who have problems with grains, it will make itself apparent without cutting out too many foods. We usually track what we eat in the beginning more closely so if you are still feeling unwell after some months, then it's time to look more closely at what you are eating...again. I just think the whole idea that all grains are inflammatory and no one should eat them is ridiculous. As Celiac's, we all will have some level of inflammation in our bodies because we have autoimmune disease. Not all of it comes from food.