With so many health problems linked to MTHFR it can be difficult to understand what exactly it is that can make this gene mutation so serious, even deadly. I’ve covered detoxification issues quite a bit on this blog up until now but the other real and related danger of having the MTHFR genetic defect is elevated homocysteine. In fact, if we’re talking about MTHFR as a disorder the original name for it is hyperhomocysteinemia. From my own research I can trace the awareness of this condition back to 1962. What’s odd to me is that, despite doctors finding that having elevated homocysteine levels could eventually be fatal as far back as 1969, very few of today’s doctors seem to know very much about it and many even dismiss it when patients bring it up. I state the latter fact based on my own experiences and also anecdotal evidence from other sufferers of MTHFR. But I suppose the reasons for this are best left for another time.
My homocysteine levels were at 9.4 umol/L in April. While some people say that this is barely over the ideal range, others (including my doctor) say that this is high, especially for my age. Sadly many doctors think that the ideal reference range for homocysteine is between five and 15! After all, that’s the reference range provided by the lab when our results are fed back to the doctors. And why on earth would they want to think outside of that reference range? I see this all the time with doctors when they read my thyroid lab results. It’s a pathetic failing of the medical industry, which I hope that we as patients can raise more awareness about. But 15 is not an acceptable homocysteine level.
What does an elevated homocysteine level mean? It means that the body cannot break down an amino acid called methionine. The methionine biosynthesizes the homocysteine (also an amino acid), which then inflicts damage on the body when its amount increases to harmful levels. This damage harms the inner arterial lining, which is called the endothelium, leading to atherosclerosis, heart attacks and strokes. High homocysteine can also cause migraines, macular degeneration, hearing loss, blood clots, a weakened immune system, inflammation, pregnancy complications and/or Alzheimer’s Disease, among other serious problems.
I’ve been wondering if my tinnitus has been caused by my elevated homocysteine. I’m still waiting for the results of my methylmalonic acid (MMA) test for Vitamin B12 deficiency, which can also cause tinnitus. In the past my serum B12 levels have been quite high but I have never had a MMA test before, which is the better way to measure B12. Testing for homocysteine can also be tricky. Dr. Ben Lynch suggests that you can test for plasma S-Adenosylhomocysteine, which will reveal more about cardiovascular risk. But guess what? When my doctor tried to order that, Labcorp told us it isn’t available. I learned later that this one is only available in the methylation pathway panel by HDRI. Not a bad one to invest in if you really want to know what’s going on.
Lowering homocysteine isn’t always easy. Assuming no issues with a CBS mutation, the common advice is to take methylfolate, P5P (B6) and methylcobalamin (B12). Lifestyle changes like quitting smoking, eliminating caffeine, stress management and reducing the amount of animal protein consumed are also advised. I’ve also started taking betaine (TMG) for this as this naturally-occurring chemical can help to lower homocysteine as well. Fingers crossed mine is lower next time I am tested for it!
Have you had your homocysteine checked?
Christina M Bass
Hi! What would be a homocysteine range that someone with MTHFR should strive to be within?
Andrea Post author
https://www.urmc.rochester.edu/encyclopedia/content.aspx?contenttypeid=167&contentid=homocysteine
Sarah V
Hello, I have recently found out I have MTHFR. My doctor isn’t taking it serious and I’ve had to research on my own. He did tell me to take vitamins. Which I have. I’ve also switched from folic-acid to folate. My diet change is probably what has helped the most. My levels were high and are now normal. I still have head aches but that could be from something else. How are your levels now?
KC
Isn’t there a specific way that homocysteine needs to be tested – I mean like don’t you have to be fasting and it drawn in the morning?
Andrea Post author
Here is a study on it but I would confirm with the ordering physician http://clinchem.aaccjnls.org/content/49/5/818
Katherine
I had my homocysteine levels checked while at the Mayo Clinic in Rochester in July. They did a whole bunch of labs and this one came back marked “red” for abnormal. My result was 30. I am 36 years old. I asked the cardiologist who ordered the test what it meant and he said he had no idea (then why did he order the test….) He said he would “get back to me” after the final appointment and never has. I just found your blog and couldn’t believe it!
What’s more is that I had a right heart Cath with exercise while there and that cardiologist said I had Mitochondrial myopathy. My overseeing cardiologist agreed. I was referred within mayo to a neurologist who saw me briefly and said “nope”. Then I was sent home. I came up there with a diagnosis of EDS and dysautonomia and left with the same. Now I’m wondering if I ought to have asked a lot more questions!!! Thanks for your informative post!
wyatt
This is a great site! I need to get tested for this, my ND said my levels are too high at 9.6 and my LDL/HDL ratio is greater than the range at 3.65 should be within <3.0
Maureen
I am 38. I have been suffering for at least 15 years. Many many doctors have told me I was fine when I wasn’t. Now I finally have a doctor that is helping me. I am very concerned however that I might need more help and quickly. My homocysteine levels are at 43! I am taking massive amounts of b vitamins but I feel like I’m dying. I’m also not making hormones. I am at post menopausal levels. Anyone else have this combo?
I am 677c>t Homozygous Wild and 1298a>c Heterozygous
Mike
Take TMG, . I had very high homocysteine levels… TMG trimethylglycine 1500mg a day. itll drop so fast. youll feel amazing.
Greg
You may find it useful to try methionine supplements eg. 500mg per day on an empty stomach. Take the B supplements as well (note: b2 necessary if you have the homozygous polymorphism). Often advice regarding homocysteine reduction assumes everyone in the west consumes huge amounts of animal protein and overdoses on methionine, which is often not the case. Methionine is an essential amino acid and also has other benefits for some diseases eg. Chlamydia pneumonia growth inhibited by methionine and/or lysine. Importantly significant methionine depletion disrupts the methylation cycle and causes sulphur amino acid dysregulation. Kilmer McCully describe this effect. My results were homocysteine level of 12.9 while taking b-complex on a fairly regular basis, then 12 months later homocysteine was 8.1 while still taking b-complex plus a 500mg methionine cap daily a few weeks prior to the blood test.
Heather Love
Hey everyone! My name is Heather, I’m 24 and I have the MTHFR gene homozygous. When I was 10 my mom had a baby with anencephaly, which is a fatal neural tube defect. Two years ago my mom was tested for MTHFR and was positive and had high homocysteine levels. She wanted me to go get tested, as this was most likely the cause of my sisters birth defect. I went to my doctor and she reluctantly checked me for both. Like I said I am positive for MTHFR gene abnormality homozygous and my homocysteine level was 18.5. Just wondering if anyone is having success with any doctors being more knowledgeable or helpful with the MTHFR gene. Also, how have you guys approached lowering homocysteine levels? And how has this affected your approach to pregnancy?
Lisa L.
I had labs drawn this month, homocysteine being one of them, as they were checking to see if I had MTHFR.
The MTHFR geneotype test was order as well as B12 and folate.
When the results came in those 3 were not shown on my lab results.
When I called my dr and they called the lab, the lab said because my homocysteine was below 11 and “in range” they didn’t run the MTHFR, B12 or folate. Ugh!! That irritates me. I still wanted to know what those levels were!!
My question is this….is homocysteine
7 umol/L really in the “no chance of having MTHFR” range?
Annaliese
My results were 10 and I have MTHFR compound heterozygous (c677t and A1298c). 10 is considered high for my age (36). If you also have CBS mutation, your homocysteine can be lower.
You can definitely have a MTHFR mutation and a “normal” homocysteine range from what I understand from Dr Lynch from MTHFR.net.
Michelle
My homocysteine is in range and I have the MTHFR mutation.
Annaliese
Hello I’m wondering if you could elaborate on the CBS mutation in regards to supplementing?
I’m 35 and recently had a miscarriage at 8wks (I do have a healthy 3 yr old as well with no conceiving or pregnancy issues). I have long suspected B12 deficiency, but I’ve tested high for B12, folate and active. B12. So I’ve been researching methylation issues for some time. My mum had her DNA checked and she has hetero CBS and MTR but normal MTHFR. She had no issues conceiving and had 3 healthy babies. So For the past 4 months I’ve been taking Thorne’s methyl folate and. B12 blend. For the first 3 months, I could only tolerate 1/4 caps for a couple of days, then a week off, otherwise I’d suffer terrible side-effects. I’m now at 1 capsule daily. The recommended dose is 3!
I’ve just had tests for. MTHFR, MTR and CBS and am waiting on these results. My homocysteine just came back at 8.8 which I believe is high. And this is after taking 1 capsule of Thorne’s methyl folate and b12 for 1.5 months! I’m worried because my dad has had 7heart attacks, he has prostate cancer, my grandmother had breast cancer and 5 mc (7 healthy babies).
Andrea Post author
Hi Annaliese, I do not have a lot of info on CBS, unfortunately. I have tried to get some guest posts on the topic from health practitioners but no luck so far (and I’m not a doctor). You might check out this article and see if it has any relevance for you. Sorry I couldn’t help at this time…
Annaliese
Thanks Andrea,
I just received confirmation that I’m hetero for C677T and A1298C. Unfortunately I still don’t have my CBS results to know for sure if I also have that (my mum has it). Fingers crossed I don’t have that as well.
Thanks again and I’ll check out the link 🙂
Kalia
Thanks for the site,very informative! Do you know what low homocysteine levels mean? Just tested and I had 4 nmol! Am C677T hetero. Have no clue what to do next and unfortunately no knowledgeable doctors in my country.
Andrea Post author
Mine have been too low for awhile now too, Kalia. I found this article that could help
Will
Great website. I was recently diagnosed C677T homozygous. I wanted to know if you discovered any connection with homocysteine levels and your tinnitus? I can’t seem to pinpoint what is the cause/correlations to my tinnitus as it comes and goes, and nothing specific seems to be repeatable along a long enough timeline to be definitive.
Andrea Post author
Thanks for your comment, Will! I do not believe my tinnitus to be related to my homocysteine as that has reduced and the tinnitus persists. What my doctor thinks is more likely is small fiber polyneuropathy that stems from the MTHFR. I wrote about this recently here.
amber
I am at the beginning of my search for knowledge. Why avoid animal protein? Due to autoimmune disease I am gluten, milk, sugar, grain and nightshade (potatoes, tomatoes, eggplants and peppers) free….only really left with meat and veggies. I am hetero for AC1298. Thanks.
Andrea Post author
Hi Amber – Thanks for your comment! There is no need to avoid animal protein altogether. My advice is to reduce animal protein if that is mostly what you eat. For example, someone having meat for breakfast, lunch and dinner might consider exchanging some of those portions for a vegetable or fruit. I got my homocysteine down from 9.4 to 6.3 with vitamin supplementation and was still eating meat or fish once a day. Eggs are a great substitute as well! If you don’t have very high homocysteine this should not be an issue for you. I mention it because some people have homocysteine in the double digits and need to see results in the near term. And, as per Dr. Ben Lynch’s advice, what you really want to be doing is limiting the amount of high methionine-containing foods, which you can find a list of here: http://nutritiondata.self.com/foods-000084000000000000000-w.html I hope this helps and good luck!
Ally
Hi Andrea-
Do you mind sharing what you supplemented with and how much? My homocysteine was11.2 in June :(, so I need to get that down asap. I’m currently working with a functional dr, but always like to see what other people are doing and if it’s worked for them. Thanks!!
Andrea Post author
Please refer to these three posts, Ally:
http://mthfrliving.com/health-tips/supplementing-for-mthfr-b12/
http://mthfrliving.com/andreas-diary/my-meth/
http://mthfrliving.com/andreas-diary/b12-methylfolate/
What I need to take will be different than what you need to take as we all have different body chemistries. Your functional dr is the one to listen to. Good luck!
Regina
I am currently have my mother’s levels checked for B12 & folate deficiency. Folate is low but B12 blood serum is in upper range, though symtoms are as if low. Like you, her homocystime level is high. Hypothyroidism can also cause B12 & Folate deficiency, which she has & anxiety and low mood. Today, I finally got her doctor to order a test Quest Labs told me about, Vit B12-Capacity test which measures how much B12 is being utilized in cells, etc. My question is if there is a malabsorbtion issue. Also, the MTHFR gene mutation test and test for methylmalonic acid level to determine which, if not both, B12 & folic acid levels. Since B12 serum showed was just nelow the highest range, its presumed the homocystime level is high because folic acid, when it has not been determined whether B12 is high but is not being utilized properly by hrr body. Between the three test, we should get some better answers. High B12 can also cause central retina artery occlusion which can cause permanent blindness in effected rye if not treat in the first 90 minutes. It is basically a stroke in the eye. Thank you for your post. It was as if I had written it myself. Doctors order test that insurance will cover it seems and uf any doubt, they don’t. That should be up to the patient, not doctors considering the risks and there are many. Also, for Metformin or glucophage users, they can limit the absorption of B12 and folic acid while managing type 2 diabetes, which my mother is no longer taking since A1C is “normal” after 10 yrs. Check out benefits of extra virgin olive oil in smoothies etc, for glucose, cholesterol, blood pressure and so on. Not Mediterranean diet per se , just adding a good brand olive oil to foods. Drizzle over prepared but good omes are not to be cooked. Will lose uts nutritional benefits. My mother’s levels have stabilized and medicine decreased and she is of a very mature age and I want her to enjoy life again! Hope my post helps someone else.