That said, making dietary and lifestyle changes can often help offset any resulting nutritional deficiencies. For example, people with high homocysteine levels due to folate or vitamin B12 deficiencies can take folic acid or vitamin B12, respectively.
If a person with an MTHFR mutation has a blood clot, for example, they will usually receive the same treatment for the blood clot as someone who does not have this type of mutation. Researchers have conducted multiple studies to determine the relationship between this type of mutation and pregnancy complications, but the data have been insufficient in their conclusions.
Existing research has not shown that attempting to intervene in an MTHFR mutation would change the outcome of a pregnancy. 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. 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. The information on this site should not be used as a substitute for professional medical care or advice. Contact a health care provider if you have questions about your health. This may cause too much homocysteine to build up in the blood, leading to various health problems, including: Homocystinuria, a disorder that affects the eyes, joints, and cognitive abilities.
It usually starts in early childhood. An increased risk of heart disease , stroke , high blood pressure , and blood clots In addition, women with MTHFR mutations have a higher risk of having a baby with one of the following birth defects : Spina bifida , known as a neural tube defect. This is a condition in which the bones of the spine do not completely close around the spinal cord.
Anencephaly, another type of neural tube defect. What is it used for? Will I need to do anything to prepare for the test? Medical Genetics Summaries. Homocystinuria due to deficiency of N 5,10 -Methylenetetrahydrofoloate reductase activity. Online Mendelian Inheritance in Man. Lab Tests Online. Genetics Home Reference. Eur J Med Genet. January ; 58 1 J Med Genet ; 40 8 — Levin BL, Varga E. J Genet Couns.
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