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
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
have Homo MTHFR. My homocysteine level is 4.9. I
was diagnosed with MTHFR in June, 2005.
had a missed Miscarriage in March of 2005. Possibly due
have 2 healthy children, but my 3rd pregnancy didn't go
as planned, and at 15 weeks we found out our little angel had
is when the doctor decided to run some tests on me, and
found the MTHFR mutation in my blood work.
take 3Mg of Folic Acid a day, 81mg Aspirin, and 1
prenatal. All spaced out through out the day.
am currently pregnant again, hoping for a extremely
healthy pregnancy, due 3-19-06