Tuesday, March 10, 2009

MTHFR: Methylenetetrahydrofolate reductase

In addition to the UU, I also have MTHFR. That is what the foltx and 81mg baby aspirin that I am now taking is for. Foltx is a folic acid, vitamin B6 and vitamin B12 cocktail. Although my RE said it wasnt serious as long as I took the foltx, this is what I found regarding MTHFR on pregnancy-info.net

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.

Because MTHFR is a blood-based disease with many varieties, symptoms vary depending on the exact mutation of the disease. They can include:

(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.)

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.

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.


  1. My SIL found out she had this after her 2nd child had a form of spina bifida and her third pregnancy resulted in a miscarriage. She takes a mega dose of folic acid and said it has done wonders for her.

    at least you know what it is now...i'm surprised your RE wasn't more concerned about it though

  2. thanks for your comment. Does your SIL take folic acid daily for MTHFR even when not trying for children, but as a daily med? My Re said that I would take it for the first trimester of a pregnancy and then possibly stop for the remainder. I was just wondering if this would be a life long med for MTHFR or just for pregnancy. Yeah I am also a little concerned that RE wasnt more concerned herself. But at the same time it maybe she isnt worried as long as I continue to take the Foltx.

  3. *hugs* Darlin'I can't even begin to imagine what you are going through, but I love you and I'm so proud of the things that you are doing. I think this journaling is one of the most important things you can do for yourself. You need an outlet to vent and gain support from others who have dealt with something like this.

    *BIG BIG hugs to you and the Bug!*

  4. Hello..just wanted to say you are not alone. I also have MTHFR and a (finally) diagnosed LPD and after 3 losses and folic acid therapy with BA and progesterone I had my second daughter in Nov 2008. I know it is frustrating and our stories our a little different, but I clung to success stories as I made my way thru my journey to my second baby. Hang in there..hugs and prayers to you!

  5. My dr wants me to stay on the folic acid and BA for life, pretty much. Has your RE advised this as well or just while you are TTC? I'm adding you to my blog list, if that is okay.