Mthfr Genetic Mutation: Symptoms And Detection

MTHFR (MethylenetetrahydrofolateReductase ) Genetic Mutation is a condition which occurs due to genetic reasons in people suffering from the mutation or any of their blood relatives. This mutation in gene causes increased levels of homocysteine. The human body is genetically unable to convert the excess of the homocysteine into simpler compounds. The MTHFR enzyme is responsible for the conversion. It also converts certain compounds of vitamin B (also called folate) into simpler compounds. The very same enzyme also converts homocysteine into methionine as well Methionine is an important compound which is very vital in muscle growth and metabolism. The excess levels of homocysteine are incredibly likely to cause homocystinuria, thrombosis or cardiovascular disease.


The symptoms that you might have MTHFR gene mutation is; if one or more of your family members or blood relatives already have it. However, if you’re noticing that you get tired easily, or have fatigue everyday, or if you’re having trouble digesting alcohol, it is imperative that you get checked as soon as possible because MTHFR gene mutation patients also have trouble detoxifying. The test for getting checked for the MTHFR genetic mutation is basically extraction of a blood sample from a vein in the arm but there is also another way by which you can detect the same.


Nowadays, there arecheek swab MTHFR kits which are easier, and not tedious,unlike the blood sample extraction. You can buy one on the internet for a cost of about $130 and can check your entire family, even your babies for the MTHFR gene mutation and be tension- free. The cheek swab test usually helps in testing the two most important genes: MTHFR C677T and MTHFR A1298C. It is hassle-free since it is just a simple cheek swab.