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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? Even though an MTHFR mutation brings a higher risk of birth defects, the test is not usually recommended for pregnant women.
Taking folic acid supplements during pregnancy can greatly reduce the risk of neural tube birth defects. So most pregnant women are encouraged to take folic acid, whether or not they have an MTHFR mutation. A health care professional will take a blood sample from a vein in your arm, using a small needle. After the needle is inserted, a small amount of blood will be collected into a test tube or vial.
You may feel a little sting when the needle goes in or out. This usually takes less than five minutes. For a newborn screening, a health care professional will clean your baby's heel with alcohol and poke the heel with a small needle. He or she will collect a few drops of blood and put a bandage on the site. Testing is most often done when a baby is 1 to 2 days old, usually in the hospital where he or she was born. If your baby wasn't born in the hospital or if you have left the hospital before the baby could be tested, talk to your health care provider about scheduling testing as soon as possible.
You may have slight pain or bruising at the spot where the needle was put in, but most symptoms go away quickly. Your baby may feel a little pinch when the heel is poked, and a small bruise may form at the site.
This should go away quickly. If positive, the result will show which of the two mutations you have, and whether you have one or two copies of the mutated gene. If your results were negative, but you have high homocysteine levels, your health care provider may order more tests to find out the cause. B vitamins can help bring your homocysteine levels back to normal. Learn more about laboratory tests, reference ranges, and understanding results.
Some health care providers choose to only test for homocysteine levels, rather than doing a MTHFR gene test. That is because treatment is often the same, whether or not high homocysteine levels are caused by a mutation. 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. We strongly recommend that you talk with a trusted healthcare provider before choosing to participate in any clinical study.
Organizations Organizations. Organizations Supporting this Disease. Organizations Providing General Support. Do you know of an organization?
Learn More Learn More. This website is maintained by the National Library of Medicine. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. MTHFR is a part of pathways acted on by certain drugs, making it a gene of research interest. A threshold of evidence must be reached before research data can be used in patient care.
You may need to register to view the pages but registration is free. Click on the link to view a sample search on this topic. See answer I have recently been diagnosed with the CT heterozygous gene mutation. See answer Have a question? References References. Overview of homocysteine. Dean L. Methylenetetrahydrofolate Reductase Deficiency. Medical Genetics Summaries. Homocystinuria due to deficiency of N 5,10 -Methylenetetrahydrofoloate reductase activity.
Online Mendelian Inheritance in Man. Eur J Med Genet. January ; 58 1 Botto LD, Yang Q. American Journal of Epidemiology. Updated estimates of neural tube defects prevented by mandatory folic Acid fortification - United States, Genet Med. February ; 15 2 American Association for Clinical Chemistry.
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