What is mthfr c677t mutation




















A vitamin B deficiency causes it when the body is unable to absorb this…. Medically reviewed by Alana Biggers, M. Possible signs and symptoms.

Treatment options for related health issues. Effects on pregnancy. Risk factors. When to contact a doctor. Latest news Scientists identify new cause of vascular injury in type 2 diabetes. Adolescent depression: Could school screening help? Related Coverage. How do you know if you have pernicious anemia? This is why testing for the variants is not recommended, unless a person has very high homocysteine levels.

It is important to keep in mind that neural tube defects have many other risk factors. Very high homocysteine levels rarely result from having the common variants alone. People with very high homocysteine levels should be carefully evaluated for other factors known to affect homocysteine, such as: [10] [11] [12] Low thyroid hormones hypothyroidism Chronic conditions obesity, diabetes, high cholesterol, physical inactivity, high blood pressure Medications atorvastatin, fenofibrate, methotrexate, andnicotinic acid Smoking Advanced age High homocysteine levels can also result from dietary deficiencies of folate, vitamin B6, and vitamin B It is very important to diagnose vitamin B12 deficiencies, as high dose folic acid supplements can mask B12 deficiencies, and put people at risk for serious and irreversible symptoms.

Learn more about B12 deficiency. If high levels of homocysteine can not be explained by factors such as those listed above, a consultation with a genetics professional may be helpful in identifying rare genetic causes of the high homocysteine.

Research helps us better understand diseases and can lead to advances in diagnosis and treatment. This section provides resources to help you learn about medical research and ways to get involved. Support and advocacy groups can help you connect with other patients and families, and they can provide valuable services.

Many develop patient-centered information and are the driving force behind research for better treatments and possible cures. They can direct you to research, resources, and services. Inclusion on this list is not an endorsement by GARD. These resources provide more information about this condition or associated symptoms.

The in-depth resources contain medical and scientific language that may be hard to understand. You may want to review these resources with a medical professional. Questions sent to GARD may be posted here if the information could be helpful to others. We remove all identifying information when posting a question to protect your privacy.

If you do not want your question posted, please let us know. Submit a new question. I also only have one kidney. My question is what are all my risks and do the risks outweigh the benefits for getting pregnant?

We want to have children, but are scared with everything going on. Thank you! See answer. What does this mean for treatment and further testing recommendations?

I have recently been diagnosed with the CT heterozygous gene mutation. What I would most like to know is: does this mutation have any bearing or is it something I do not need to concern myself with? National Institutes of Health. COVID is an emerging, rapidly evolving situation. Menu Search Am J Hum Genet.

Seyoum E, Selhub J. Properties of food folates determined by stability and susceptibility to intestinal pteroylpolyglutamate hydrolase action. J Nutr. Updated estimates of neural tube defects prevented by mandatory folic acid fortification — United States, Population red blood cell folate concentrations for prevention of neural tube defects: Bayesian model.

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CDC is not responsible for Section compliance accessibility on other federal or private website. Cancel Continue. Gene mutations are inherited, which means you acquire them from your parents. If both have mutations, your risk of having a homozygous mutation is higher.

Symptoms vary from person to person and from variant to variant. Evidence linking most of these health conditions to MTHFR is currently lacking or has been disproven. The risk is possibly increased if a person has two gene variants or is homozygous for the MTHFR mutation. Consider visiting your doctor and discussing the pros and cons of being tested. Keep in mind that genetic testing may not be covered by your insurance. It could just mean you need to take a vitamin B supplement.

Treatment is typically required when you have very high homocysteine levels, almost always above the level attributed to most MTHFR variants.

Your doctor should rule out other possible causes of increased homocysteine, which can occur with or without MTHFR variants.

In these cases, your doctor may suggest supplementation to address deficiencies along with medications or treatments to address the specific health condition. People with MTHFR mutations may also wish to take preventive measures to lower their homocysteine levels. One preventive measure is changing certain lifestyle choices, which may help without the use of medications. Examples include:.



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