How is mthfr diagnosed

Methylenetetrahydrofolate reductase helps process amino acids, which are the building blocks of protein. More specifically, methylenetetrahydrofolate reductase converts the amino acid homocysteine to another, methionine. Now, there are a lot of individuals who have variant in the MTHFR gene, meaning that there is some amount of alteration in the DNA sequence that makes up that gene. She adds that these variants are present in roughly 40 percent of people.

Eng explains. To date, there are no large-scale, well-designed epidemiological studies that prove that either of these variants cause the health effects that these health forums commonly associate with them. And there are thousands of studies that go back and forth like this in regards to hundreds of health conditions.

There is an exception for which the research is more consistent: Some people with two copies of CT may have elevated homocysteine , and research shows they could be at risk of having a baby with a neural tube defect. But, again that combination is uncommon. As for people who do have a true MTHFR mutation, meaning a gene mistake large enough to cause clinical symptoms? 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. Symptoms vary among individuals and depend on the type of mutation they have.

People usually do not know that they have an MTHFR mutation unless they experience severe symptoms or undergo genetic testing. Having one or two MTHFR mutations can slightly increase the levels of homocysteine present in the blood. This condition is called homocysteinemia.

Homocysteine is an amino acid that the body produces by breaking down dietary proteins. Having high levels of homocysteine can damage blood vessels and lead to blood clots. People who have high homocysteine levels tend to have low levels of vitamin B A doctor can determine whether or not a person has an MTHFR variant by reviewing their medical history, considering their current symptoms, and performing a physical examination.

This is because the common gene mutations alone, without other symptoms, are not considered major risk factors for heart disease , and the results of testing have little impact on medical management.

MTHFR mutations do not require medical treatment. That said, making dietary and lifestyle changes can often help offset any resulting nutritional deficiencies. Be sure to check labels, as this vitamin is added to many enriched grains, like pasta, cereals, breads, and commercially produced flours. Learn more about the difference between folate and folic acid. More research is needed to determine the true impact, if any, associated with the variants.

Speak with your doctor about the benefits and risks of testing, as well as any other concerns you may have. Continue to eat well, exercise, and practice other healthy lifestyle habits to support your overall well-being.

Folic acid and folate are two forms of vitamin B9. However, they do not have the same effects on your health. Prenatal nutrition can be confusing. This article explains which supplements are believed to be safe during pregnancy and which ones you should avoid. Curly hair is determined by factors you inherit from your biological parents.

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