Methylenetetrahydrofolate reductase (MTHFR) is a rare genetic defect that can lead to complications in pregnancy. Many people do not know that they have this defective gene until after they have had several unsuccessful pregnancies. Others may carry one pregnancy to term and not discover until after wards that they carry the defect.
Women with MTHFR factor have spontaneous miscarriages between 5th and 6th weeks (yeah that is me...as soon as I find out I am BFP. it's immediately followed by a m/c), and a lack of B6 and B12 directly affects rapidly reproducing cells... and that would be what an embryo does. A lack of B6 and B12 causes rapidly reproducing cells to STOP reproducing.
What is MTHFR?
Methylenetetrahydrofolate reductase (MTHFR) is the name of a gene that produces an enzyme, also called methylenetetrahydrofolate reductase. If a person carries the genetic mutation that inhibits production of this enzyme, it can result in hyperhomocytenemia, which is an elevated level of an enzyme called homocysteine found in blood plasma.
When the body is deficient in methylenetetrahydrofolate reductase, its ability to absorb folate (also known as vitamin B9), such as folic acid, is inhibited. Folic acid and B9 are both essential to the development and health of the fetus.
MTHFR and Pregnancy
Because of a mother with MTHFR’s inability to efficiently metabolize folic acid and vitamin B9, the disorder has been linked to a variety of pregnancy complications such as chromosomal abnormalities, such as Down syndrome, and congenital malformations.
Elevated levels of homocysteine have been associated with placental disease, preeclampsia and recurrent pregnancy loss. 21% of women with high levels of homocysteine experience recurrent pregnancy loss.
Symptoms
Because MTHFR is a blood-based disease with many varieties, symptoms vary depending on the exact mutation of the disease. They can include:
- blood clots
- depression
- anxiety
(This is mind blowing for me as I have suffered from anxiety since childhood and depression since my teenage years. I have talked to others with MTHFR that have been taking the extra vitimin cocktail and they said thier depression went away and their engergy level skyrocketted. WHOA.)
Detection
Blood testing is the most accurate way to screen for MTHFR. This is especially true if women have a history of complicated pregnancies, including recurrent pregnancy loss and/or stillbirths, or if they have given birth to a child with neural tube defects, such as spina bifida.
Treatment
Taking folic acid can help women with certain mutations of the disease. Folic acid can be found in eggs, dark leafy vegetables, such as spinach and broccoli, oranges and orange juice and legumes, such as peas and dried beans. Vitamin supplements also contain folic acid.
