Jen, you are very right about the name MTHFR ...I does sound like the 1990 Prince hit:-)
Here are some information I found on the Internet. Maybe it can be useful to some ladies here in the forum. My former ob/gyn didn't want to run the tests; he said they are normally done "after a 3rd m/c". I had to convince him to do the after all, and now I know that there is something I can treat next time. I'm now with a new ob/gyn who is much more proactive and I think that's a good thing. I don't see the point of going through a 3rd m/c with all its pain and heartbreak if I can potentially avoid it by taking a simple blood test.
What's interesting here is that the MTHFR mutation is also linked to anxiety and depression. I have had a major clinical depression 8 years ago for now apparent reason (I was on anti-depressants for 2 years), so I am wondering if there is any link.
I hope the following information will be useful to some of you ladies out there: (as I said, my treatment is high dose folic acid and daily heparin once pregnant)
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
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.
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