The good news though is you now are aware why so many symptoms go on unchecked without any successful treatment.
You are perhaps wondering: What next?
In working with many who have MTHFR mutations, I have learned the hard way that further testing is needed.
Typically, I am not a fan of ordering laboratory testing right away for various reasons:
- I feel like I am cheating – looking at the ‘answer key’ before I even get started my own thinking process
- Expensive for people
- I want to figure out what is wrong by taking a thorough history and ordering labs right off may reduce ‘digging’ for the root cause.
- Scary for children and some adults to get poked and prodded.
- I’ve worked with countless people who reversed their symptoms by simply avoiding wheat and dairy. (They didn’t have MTHFR mutations…)
I’ve grown out of these reasons even though I still respect my concerns and the financial aspect of the testing. MTHFR affects people differently and ‘guessing’ which lifestyle changes, medications or nutrients each individual needs is not productive nor cost-effective.
That said, I’ve learned which tests appear to be most useful in directly measuring important aspects of those with MTHFR (and even those without).
Here are the laboratory tests I like to recommend for MTHFR and the reasons why:
- Biopterin/Neopterin: For those with A1298C mutations, BH4 (also known as tetrahydrobiopterin) levels are typically quite low. This test provides insight to how low these levels are and why. If neopterin levels are high, then I am considering the possibility of a lingering infection, inflammation or chronic immune response that is preventing biopterin from being formed. Thus, this test provides information not only potentially low biopterin levels but also why they may be low.
- If a doctor simply prescribes BH4 without understanding the need to address the inflammation and chronic infections, it is band-aide treatment over a gaping wound.
- Learn more about the Biopterin/Neopterin test here.
- Urinary Porphyrins: Those with MTHFR mutations typically have elevated levels of heavy metals. This test points out the potential of heavy metals without the damaging effects of provoked urinary heavy metal testing. If urinary porphyrins are elevated, then you know you must work with a physician who is very knowledgeable about heavy metal chelation.
- If a physician prescribes medications or supplements without addressing heavy metal toxicity at some point, effective treatment for MTHFR cannot exist.
- Learn more about the Urinary Porphyrins test here.
- Urinary 40 Amino Acids: Those with MTHFR mutations have many amino acid imbalances. Not only does the Amino Acid test identify amino acids which are imbalanced, but it also informs a knowledgeable physician of other potential mutations. Yes, it is not that easy all the time. I’ve found that while working with MTHFR mutations, I do not get the results I normally see right away. Why? Because there are other mutations present which must be identified and addressed. Amino acids are the backbone of neurotransmitters. If any are low, then symptoms of ADD/ADHD, depression, bipolar, autism and other symptoms are likely present.
- If a physician ignores knowing which amino acids are imbalanced, symptoms will linger on and the individual with MTHFR will not recover nearly as quickly. Worse yet, symptoms may worsen if a physician prescribes a medication or supplement which aggravates an already imbalanced amino acid level.
- Learn more about the 40 Amino Acids test here.
- Comprehensive Organic Acids: Those with MTHFR commonly have deficiencies in various metabolic pathways. Until these deficiencies are identified and addressed, fatigue, pain and other symptoms linger. This test identifies a variety of useful indicators such as potential candida infection, nutrient deficiency, B vitamins, energy production, fatty acid metabolism and carbohydrate metabolism, bacterial infection, ability to detoxify, oxidative damage, neurotransmitter metabolism,
- If a physician simply prescribes you folic acid and aspirin, are they doing the right thing? They doing all the need to do? You miscarrying? Having blood clots? Suicidal? Depressed? Neuropathy? Insomniac? Autistic? Then the right thing to do is evaluate YOUR biochemistry and get it on track.
- Learn more about the Comprehensive Organic Acids test here.
- Nutrient and Toxic Elements – 24 hour Urine: Those with MTHFR mutations are commonly over-burdened with toxins and infections which deplete nutrients quickly. This test provides insight into which nutrients are specifically low and which heavy metals are being consumed presently. If an individual has elevated urine heavy metal without provocation, then they are experiencing current exposure which must be determined.
- If a physician ignores present exposures to heavy metals, then they are fighting a raging fire with one bucket of water. I am also of the belief that a physician must address targeted nutrient deficiencies in order to restore cellular function.
- Learn more about the Nutrient and Toxic Elements test here.
You can consolidate many of these tests by ordering just one specific test:
- Cardio Individualized Optimum Nutrition Profile: This profile combines the following tests – just not as complete as ordering them separately:
- Nutrient and Toxic Elements
- Amino Acids
- Essential Fatty Acids
- Organics Comprehensive Profile
- Cardiovascular Risk Profile
- Learn more about the Cardio ION Test here.
- NutrEval FMV by Genova is similar to the ION Profile by Metametrix but the information is presented differently.
Other testing to consider but not absolutely essential right away:
- Ammonia: not essential because these tests identify the reason why ammonia will be elevated in the first place. (This marker is found in the NutrEval FMV test.)
- Histamine: not essential because we can see histidine levels which is the precursor to histamine
- Glutathione: we can deduce if glutathione is low if glycine, cysteine, selenium and glutamine are low.
- Lipoprotein a: a very bad marker for cardiovascular disease. If this is elevated, it must be lowered to reduce cardiovascular risk. (This is found in the Cardio ION Profile.)
- Gastrointestinal Testing: not essential because we can see potential yeast, bacterial, viral or fungal infections in the other lab tests. Plus, I always personally address everyone’s digestive function no matter what as I assume it is not optimized anyhow. Why pay for information that I already know is going to be potentially faulty? Lifestyle and dietary changes can make dramatic improvements in digestive function. Supplements may be needed as well – especially probiotics. If no improvement is seen within a few weeks of altering diet, lifestyle and taking suggested supplements, then GI testing may be needed.
- Leaky Gut Testing: not essential because I personally address it out of the gate anyhow. Everyone has some extent of leaky gut – especially if they consume gluten. If you eat wheat, stop. It is that simple. Yes – everyone needs to stop eating wheat – period. It is a VERY toxic grain and it is increasing autoimmune disease significantly in our country. Even the FDA is working on getting gluten out of all pharmaceutical medications. That tells you something. Stop eating wheat, will you?
- Heavy Metal Testing: Many with MTHFR mutations are not ready to dive right into heavy metal chelation. Digestive function, mental function, increased energy and basic lifestyle and dietary changes must be addressed before diving right into something as potentially harmful as heavy metal chelation. Once your body is ready to handle the added stress of chelation, then you move to it.
- Obviously, if you are grossly burdened with heavy metals, perhaps it is best to remove them immediately; however, for the majority of people I have worked with, it is best to improve liver, kidneys, digestion, adrenals and general nutrition prior to chelating.
- DetoxiGenomics: This is a genetic test which identifies which genes designed for detoxification are not working properly. This is very useful information to know if someone has been detoxing and only feeling worse. I prefer to optimize the individual first through diet, lifestyle and a specific supplement protocol along with sauna therapy, colonics and/or coffee enemas …and epsom salt baths, castor oil packs, dry skin brushing, rebounding. If I am not getting improvement through this methods, then a DetoxiGenomics profile may be necessary.
- Pyroluria: This is a condition where people have trouble utilizing zinc and vitamin B6 because of a blood metabolite called kryptopyrroles. Kryptopyrroles come from hemoglobin. If anxiety, depression and other symptoms of mental dysfunction are not improving with MTHFR treatment along with lifestyle and dietary changes, then pyroluria must be considered.
- Additional SNP’s: In working with those with MTHFR mutations, I’ve realized that I am not only dealing with MTHFR mutations. While this is obvious because everyone’s biochemical make-up is unique, it is not obvious because physicians have not been using genetic testing as a guide for treatment very long – and some doctors are not using it at all still.
- This test really provides a ton of very useful information about other mutations that are nearby the MTHFR gene. If the MTHFR gene is mutated and so is the CBS, MAO A, COMT and MTR genes, then we have a very difficult situation to deal with.
- What does SNP mean? Single nucleotide polymorphism. This is a genetic mutation where a single base is different from what the wild type (normal) base is supposed to be.
- I will likely start recommending this test right away as it will save me countless headaches knowing that the individual has X, Y and Z mutations. This information guides my suggestions more effectively.
- Once I have this test available, I will post it here. Right now, it is in development. Expected arrival: January 30, 2012.
Labs that I want to see but no lab is readily providing them:
- Red blood cell methylfolate: an excellent measure to see how much methylfolate you have in your system. Why take 15 mg of methylfolate if you don’t need it?
- Peroxynitrite: no lab that I’ve found yet tests directly for this. Doctor’s Data has a precursor to this marker. I will research more and provide information as I find it. Peroxynitrite is likely elevated in those with A1298C MTHFR mutations and it is VERY toxic.
Overwhelmed? I understand.
Digest this over time or simply go for it and get it done. You live once. Your loved ones live once. You deserve to know what is going on internally and identifying the root cause of your symptoms.
Please share this information with your physician. Many of these laboratory tests may be covered by your insurance so please try to obtain these tests through your physician first. If that is not possible, you may order them through me. I can provide information about your results but I cannot – and will not – diagnose, treat or prescribe.
New Yorkers: It is not possible for me to provide these tests or any laboratory testing to those living in New York. You must work with your local physician in New York in order to obtain testing. This is New York state law.
Test results typically are known within 2 to 3 weeks.
Questions or comments – please post below. If you know of other testing which was very useful for you, please do comment below. Please do press LIKE, Tweet and +1 as people with MTHFR need to know about these laboratory tests.