What Is MTHFR...in simple terms!
How to Test for Mthfr
MTHFR is an enzyme that plays a significant role in many different bodily functions, so MTHFR deficiencies can cause a variety of moderate to serious health problems. When you test for MTHFR deficiencies, you'll actually be testing for mutations in the gene responsible for producing the MTHFR enzyme. The test itself must be performed in a research laboratory, but there are several signs and symptoms you can watch for on your own.
Learn about the MTHFR gene.This gene allows the body to produce methylenetetrahydrofolate reductase (MTHFR), an enzyme that plays a key role in the body's ability to process amino acids.
- Your body uses amino acids to build proteins and other bodily compounds.
- More specifically, without MTHFR, the body isn't able to effectively convert the amino acid homocysteine to a secondary amino acid known as methionine.
- Methionine is needed to maintain the body's metabolism and developmental capabilities. If your body doesn't have enough methionine, you could be more prone to certain cognitive, physical, and mood disorders.
Know how MTHFR gene mutations can affect the body.There are multiple types of MTHFR gene mutation, but the most common cause abnormally high levels of the homocysteine enzyme to linger in the blood.
- When someone inherits the mutated MTHFR gene from both parents, that individual typically develops homocystinuria. This is the most common form of MTHFR deficiency, and it can also be the most problematic.
- Too much homocysteine in the blood also means that there is not enough converted methionine.
- When the balance of homocysteine and methionine collapses, the body is more likely to experience various physiological and psychological health problems.
Know When to Test
Familiarize yourself with the possible symptoms.MTHFR gene deficiencies do not exhibit the sort of symptoms you would expect of a disease. Since the problem lies within your genetic code, the symptoms of MTHFR deficiency will actually reveal themselves as other illnesses, conditions, and disorders.
- Many of the medical conditions linked to MTHFR deficiency are fairly common, and on their own, they may not be indicative of a deeper problem. If you experience two or more of these medical conditions, however, it might be worth getting tested. This is especially true if the conditions you develop otherwise seem unrelated.
Look for neurotransmitter issues.Inadequate amounts of methionine can hinder the function of neurotransmitters in the brain, resulting in certain mood and memory disorders.
- MTHFR deficiency could be to blame if you struggle with clinical depression, anxiety, bipolar disorder, insomnia, schizophrenia, and Parkinson’s disease.
- Additionally, MTHFR related neurotransmitter issues could increase the risk of developing addictions to tobacco, alcohol, drugs, or other chemical substances.
Watch out for cardiovascular risks.High levels of homocysteine are linked to many types of cardiovascular diseases and related disorders. As such, cardiovascular risks could be indicative of an MTHFR deficiency.
- Heart attack, stroke, coronary artery disease, deep vein thrombosis, excessive clotting, and glaucoma are all disorders that have been linked to this type of deficiency.
Take certain pregnancy and developmental conditions into consideration.MTHFR mutations can also cause the body to have difficulty processing folic acid (vitamin B9).
- A woman who is unable to process folic acid is more likely to experience problems related to pregnancy, including frequent miscarriages, still births, and pre-eclampsia.
- This inability can also affect the developing fetus and might be responsible for certain birth defects, including cleft lips and cleft palates. The fetus can also develop brain defects like spina bifida, in which the bones of the spinal column fail to close around the nerves of the spinal cord, or anencephaly, in which large parts of the brain or skull bone do not form.
Pay attention to problems with toxins.MTHFR deficiency can also reduce the body's ability to eliminate heavy metals and other toxins, which can but stress on nearly all bodily systems.
- Genetic immune and autoimmune disorders can be linked to this deficiency, as can severe allergies, chronic fatigue, frequent headaches, and insomnia.
- An inability to eliminate toxins can also lead to thyroid disorders, menstrual disorders, kidney damage, and cancer.
Consider complex disorders.Medical problems that result from a combination of neurotransmitter, cardiovascular, developmental, and/or toxin elimination problems can also be indicative of MTHFR deficiency.
- In particular, this can include fibromyalgia, irritable bowel syndrome, autism spectrum disorders, and peripheral neuropathy.
Know your family medical history.Since MTHFR deficiency is a genetic disorder, it will probably run in the family. Others in your family will probably have the deficiency, too, especially close relatives.
- If one of your relatives has a known MTHFR deficiency, it's a good idea to talk to your doctor about testing yourself, too. This is especially true if you, your parents, your siblings, or your grandparents have experienced any of the known disorders linked to the deficiency.
- Since medical knowledge about MTHFR is fairly recent, it is possible that your ancestors may have had the deficiency without an official diagnosis. If your family medical history includes many of the disorders linked to MTHFR, there is a stronger probability that an unknown MTHFR deficiency has been passed down to you.
Understand the value of MTHFR testing.By testing for MTHFR abnormalities, you can identify future risk factors and take preventative measures to avoid certain health problems.
- Since you'll need to develop a condition indicative of MTHFR deficiency before you might suspect a problem, testing for irregularities in the gene might seem pointless at first. By testing for the MTHFR abnormality, though, you can learn whether or not the problem is actually linked to the MTHFR gene. If it is, you can take preventative measures to stop other related disorders and conditions from developing.
Test for MTHFR Deficiencies
Talk to your doctor about testing.If you have two more more related health conditions, talk to your general physician about testing for MTHFR genetic mutations.
- Your doctor will be able to discuss and analyze the risk more thoroughly. If he or she agrees that testing might be wise, your doctor can take steps to order it.
- Depending on the circumstances, your doctor will either collect the necessary sample and send it to an analysis laboratory or send you to a hospital that will collect and analyze the sample in the same location.
Take a blood test.The most common and most accurate test for MTHFR mutations will be a blood test. Your doctor will collect the necessary blood sample and send it for analysis at an appropriate laboratory.
- The lab technicians will study your blood sample at a genetic level and look for abnormalities in the MTHFR gene.
Consider a saliva test.During a saliva test, your doctor will collect a sample by swabbing the inside of your cheek. That sample will also be sent to a lab for genetic analysis.
- Saliva tests are generally less thorough and may not be as accurate as blood tests, so your doctor is less likely to use it.
- There are currently no home-based genetic tests that are approved for MTHFR diagnostic purposes. Even if you take DNA test that allows you to collect and send your own sample, you will only get raw data back, and you probably won't be able to decipher that data without professional medical knowledge.
Discuss the results with your doctor.When the results come back, they will show as either positive or negative.
- Positive results will usually name the specific mutation, as well. A written interpretation of those results might be included, but if it isn't, you will need your doctor to explain the results to you.
- After you receive the results, you should also talk to your doctor about possible treatment plans.
Treat MTHFR Deficiencies
Address nutritional deficiencies.Since many of the medical problems associated with MTHFR mutation are connected to folate deficiencies, you might be able to help counteract those problems by consuming more external folate.
- Include more folate-rich foods in your regular diet. Good options include spinach, asparagus, chickpeas, beans, and broccoli.
- Consider taking a methyl folate supplement on a daily basis, as well. The supplement should provide your body with converted folate it can use to maintain bodily functions.
Cleanse the liver.MTHFR deficiencies can make it difficult for your body to naturally eliminate toxins, so you might be able to help your body by undergoing the occasional liver cleanse.
Opt for prescription treatment.If there are other risk factors that may put your overall health at risk, your doctor may prescribe a stronger supplemental treatment to help provide your body with what it lacks.
- One of the most common prescription treatments is 5-MTHF supplementation. This is the end product of healthy, normal MTHFR catalytic reactions. Since your body isn't producing enough 5-MTHF, artificial supplementation may help correct some of the problems caused by the deficiency.
Note that there is no cure.MTHFR abnormalities are a genetic problem, so no medication, surgery, or other treatment can correct it.
- Once you know about the problem, though, you can take measures to combat it and reduce your risk of experiencing further MTHFR complications.
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