Finally getting a diagnosis that explains what's been going on with your health can be a relief, but it can also lead to many more questions, especially when it's a condition you are unfamiliar with. One such diagnosis is that of a MTHFR gene mutation. MTHFR stands for methyltetrahydrofolate reductase, which plays a role in repair and synthesis in DNA as well as the production of neurotransmitters and distribution of folate and folic acid.
A mutation of the gene that produces MTHFR can cause a wide range of medical problems including mental health issues, cardiovascular diseases, miscarriages, and thromboembolic diseases. Fortunately, there is treatment available in the form of supplements, but you have to be careful in getting the right kind. Here's what you need to know.
Genetic Testing Is Important
First, it's important to have genetic tests done to determine which type of MTHFR gene mutation you have as there are two types: heterozygous and homozygous. Heterozygous is a gene mutation from one of your parents and means that the enzymes that make MTHFR produce less of it than you need. Homozygous means you got the gene mutation from both of your parents and means that you produce much less MTHFR than is needed.
The reason genetic testing is important is to determine just how little MTHFR your body produces so your physician can develop a supplement plan to replace the folate and folic acid that your body is unable to use or process. Normally, folic acid is broken down in the body by enzyme produced by the MTHFR gene and methylfolate is produced, which is the bioavailable form of vitamins B9 and B12.
Supplements From a Compounding Pharmacy
Since your body lacks the ability to carry out necessary processes due to a MTHFR gene mutation, you will need to take supplements at the correct dosage and strength for you. Fortunately, you can get customized supplements through a compounding pharmacy. If you have sensitivities or allergies to fillers and colorants, as some with MTHFR do due to the increased homocysteine levels caused by vitamin and folate deficiencies, be sure to inform the compounding pharmacy that you don't want any fillers, colorants, or other substances added to the prescription.
When you start taking the supplements, be sure to keep track of your symptoms by writing them down. Doing this will be helpful for your physician and pharmacist to determine whether or not adjustments will be necessary to the prescribed dosage and strength.