For this reason, current guidelines from multiple sources state not to routinely screen for this mutation. Mutations can occur in one or both of these genes. People who have two parents with a mutation have an increased risk of having a homozygous MTHFR mutation.
A person should contact a doctor if they experience any symptoms of a folate or vitamin B12 deficiency, which may include:. A person should also contact a doctor if they experience any symptoms of anemia, which may include:. MTHFR mutations do not affect everyone in the same way. People who have one or more MTHFR variants may have higher-than-normal levels of homocysteine in their blood or urine. Although existing research has identified associations between MTHFR variants and numerous health conditions, more research is necessary to determine the exact effects of these gene mutations on health.
People can speak with a doctor about the benefits and risks of genetic testing. However, most health organizations do not recommend genetic testing unless a person experiences significant health effects.
Homocystinuria is a genetic condition in which the body is unable to break down certain proteins. Menu Search You can help advance rare disease research! This site is in-development and may not reflect the final version. Preview the new GARD site. Not a rare disease. Other Names:. Methylenetetrahydrofolate reductase variant. Summary Summary. Symptoms Symptoms. Do you have updated information on this disease? We want to hear from you. Inheritance Inheritance.
People who inherit two copies of CT have a higher risk for having a child with a neural tube defect. Diagnosis Diagnosis. Common MTHFR gene variants have not been proven to be a concerning risk factor for blood clots, pregnancy loss, or other negative pregnancy outcomes.
This is because results have little impact on a persons medical management. Any individual who suspects that a disease or disorder is related to MTHFR deficiency should talk to their doctor about testing for fasting homocysteine levels in the blood.
If the fasting homocysteine level in the blood is normal, then it is unlikely that the person's symptoms are due to the MTHFR genetic variation. The intended audience for the GTR is health care providers and researchers. Patients and consumers with specific questions about a genetic test should contact a health care provider or a genetics professional. Treatment Treatment. If a person has high homocysteine levels they should be carefully evaluated to identify all causes. 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 Dietary deficiencies folate, vitamin B6, vitamin B12 Smoking Advanced age Treatments and life-style changes are given based upon the patient's circumstances.
As mentioned above, homocysteine levels can rise in people with and without MTHFR gene variants if they lack folate, choline , or B vitamins B12 , B6 , and riboflavin. People with concerns about their nutrition should speak with a healthcare professional. Supplements may be recommended if the person is found to have a nutritional deficiency. Women of childbearing age should take the standard dose of folate supplementation to reduce the risk of neural tube defects.
Research Research. Clinical Research Resources ClinicalTrials. Click on the link to go to ClinicalTrials. Please note: Studies listed on the ClinicalTrials. Spina bifida Some studies have found that polymorphisms in the MTHFR gene are also associated with a small increased risk of spina bifida, another common type of neural tube defect.
Other disorders Polymorphisms in the MTHFR gene can alter or decrease the activity of methylenetetrahydrofolate reductase, leading to a mild increase of homocysteine in the blood hyperhomocysteinemia.
Obstet Gynecol. Epub Feb Am J Epidemiol. Genet Med. Epub Jan 3. Erratum in: Genet Med. J Vasc Surg. Epub Jan Neurol Res. J Genet Couns. Epub Apr Acta Haematol.
Epub Dec 7. Characterization of six novel mutations in the methylenetetrahydrofolate reductase MTHFR gene in patients with homocystinuria. Hum Mutat. Citation on PubMed Trabetti E.
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:. The Genetic and Rare Diseases Information Center says studies suggest that women who have two CT variants are at an increased risk of having a child with a neural tube defect. A study looked at women with a history of recurrent miscarriages.
It found that 59 percent of them had multiple homozygous gene mutations, including MTHFR, associated with blood clotting, versus only 10 percent of women in the control category. Extra folate supplementation may also be recommended. Changing the supplementation of this nutrient is a potential focus in countering its effects. Folic acid is actually a man-made version of folate, a naturally occurring nutrient found in foods.
Taking the bioavailable form of folate — methylated folate — may help your body absorb it more readily. Most people are encouraged to take a multivitamin that contains at least 0. Pregnant women are not encouraged to switch prenatal vitamins or care based on their MTHFR status alone.
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