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Website B-Day July 16, 2005



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What is MTHFR?


MTHFR - (Methylene-tetra-hydro-folate-reductase) is an enzyme found in the cells of our body. It is needed to metabolize (break down) homocysteine, an amino acid found in the proteins you eat. Elevated homocysteine levels have been associated with fetal neural tube defects (i.e., spinal Bifida) and miscarriage. An elevated homocysteine level can also indicate a increased risk factor for blood clots, arteriosclerosis (hardening of arteries) and strokes in both men and women. The metabolism of homocysteine depends on several enzymes, one of which is MTHFR, along with B vitamins and folic acid. In other words, B vitamins, folic acid and MTHFR are necessary to keep homocysteine levels within normal limits.

Sometimes your MTHFR has a genetic defect. These defects are fairly common and its estimated by some studies that up to 60% of the population have one MTHFR mutation or another.

There are two common genetic MTHFR mutations. If you have one mutation only, you are heterozygous. It is reported that nearly half the population is MTHFR heterozygous. - it is nothing abnormal. If you have two copies of the same mutation, you are homozygous. Homozygotes can have elevated homocysteine levels in maternal blood and amniotic fluid. If you have one copy each of the two different mutations, you are compound heterozygotes. Compound heterozygotes have the same treatment and risk level as homozygotes. If you have neither mutation, you are negative and don't need to worry about MTHFR.

There is NO CURE for MTHFR mutation. If you have the mutation, that's the way your body is made. You can, however, lessen any risk factors you have by taking B vitamins, Folic acid and baby aspirin in doses prescribed by your doctor. By taking these agents, you can lower your homocysteine levels and therefor your risk for the conditions above.

MTHFR mutations are hereditary. Families with significant early cardiovascular disease or recurrent pregnancy loss might benefit from clinical investigation.

++++ I typed this up from the form my doctor gave me, when he told me I have  MTHFR++++





 Hello,  My name is Brooke,  I am the owner of 



I have Homo MTHFR. My homocysteine level is 4.9.   I was diagnosed with MTHFR in June, 2005.


I had a missed Miscarriage in March of 2005.  Possibly due to MTHFR. 

 I have 2 healthy children,  but my 3rd pregnancy didn't go as planned, and at 15 weeks we found out our little angel had passed.


That is when the doctor decided to run some tests on me,  and found the MTHFR mutation in my blood work.


I take 3Mg of Folic Acid a day,   81mg Aspirin, and 1 prenatal.  All spaced out through out the day.


I am currently pregnant again,  hoping for a extremely healthy pregnancy,  due 3-19-06

























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