Top
10
Doctor insights on: Mthfr Mutation

Share

Mutation (Definition)

In genetics, a mutation is a change in the nucleotide sequence of the genome of an organism, virus, or extrachromosomal genetic element. Mutations result from unrepaired damage to dna or to RNA genomes (typically caused by radiation or chemical mutagens), from errors in the process of replication, or from the insertion or deletion of segments of dna ...Read more


2

2
Does FADH2 play the same role in MTHFR mutated forms as it does in the otherwise normal form, and could MTHFR mutation alone cause FADH2 depletion?

Does FADH2 play the same role in MTHFR mutated  forms as it does in the otherwise normal form, and could MTHFR mutation alone cause FADH2 depletion?

Homocysteine: The majority of population has at least a single MTHFR mutation and around 40% have a double mutation (either heterozygous (one of each) A1298C & C677T, homozygous (two) C677T or homozygous A1298C). The MTHFR enzyme metabolizes folic acid into 5-MTHF, needed to combine with homocysteine. What is often seen with MTHFR mutations are: elevated homocysteine levels and defective methylation. ...Read more

3

3
Who can test me for vitamin levels and where can I get 5-mthf, also are there any doctors who specialize in mthfr mutation in san antonio texas?

MTHFR Gene mutation: For more information on methy-folate supplementation and testing for mthfr gene mutations, read this... http://doccarnahan.blogspot.com/2013/10/whats-big-deal-about-methylation-update.html. ...Read more

See 2 more doctor answers
4

4
Taking Clexane from week 8 till now 29 due to mthfr mutation, is it okay to have normal delivery or i have to do cesarean & when can i stop inj it?

Taking Clexane from week 8 till now 29 due to mthfr mutation, is it okay to have normal delivery or i have to do cesarean & when can i stop inj it?

Doctors instructions: Clarify with your Obgyn the treatment plan for your pregnancy. It is not typical to deliver via c section simply because of a MTHFR mutation. The doctor may want you to continue the medication until delivery and even after. They may ask you to stop it 24 hrs before delivery if regional anesthesia is planned. ...Read more

6

6
How are mthfr mutations and chiari malformation related? Should i get tested if I have chiari? (and high B6 levels, for no good reason)

Forgive my frankness: One lab is promoting testing for mthfr mutations despite the fact that they merely identify folks who may be at slightly extra risk for this-and-that and who need to be extra-sure they get enough nutrients. A majority of people carry at least one 'mutant mghfr' and this is generating all kinds of scares. No relatioship to your chiari. ...Read more

7

7
Diagnosed homozygous for MTHFR mutation, proscribed 5mg Folic acid. Should I be taking Methylfolate instead?? What about B6 & B12?

Get several opinions: The pathology community is divided about this. You already know that a majority of seemingly-healthy people who are tested for MTHFR will be told they are "abnormal" & need special Rx. The lab that pressures physicians to order MTHFR testing may also contact these people to sell them nutritional supplements. If you are concerned, speak with a subspecialist and/or a clinical geneticist. ...Read more

8

8
Dr. Chevies newman, does mthfr mutation prevent body from processing folic acid or doing it well? I hear it takes time to build up folate. As i didn't start that early, I am worried about neural tube defects.

Dr. Chevies newman, does mthfr mutation prevent body from processing folic acid or doing it well? I hear it takes time to build up folate. As i didn't start that early, I am worried about neural tube defects.

He's right but...: Since you are heterozygous you will be able to convert some Folic Acid to the active l-5-mthfr form. Also, hopefully your diet had adequate folate (folic acid) from green leafy veggies etc. Because 30% of people have folate (folic acid) metabolism issues i advise women to take prenatals that have the l-5-mthf form. If worried you can get imagining studies to check for neural tube defects. ...Read more

See 2 more doctor answers
9

9
I have mthfr 2 mutations, i had 3 miscarriages one 2nd trimeste loss chances of this causing them?

MTHFR SNPs: Yes, methylation problems can definitely cause miscarriages and birth defects. Knowledge is powerful, though. Find a provider who understands how to evaluate and treat this. Have a look at www.mthfr.net there is a list of providers with extra training on MTHFR. ...Read more

See 2 more doctor answers
10

10
Could mthfr c667t mutation be the cause of elevated mcv, mch, and b12?

Could mthfr c667t mutation be the cause of elevated mcv, mch, and b12?

No: Look for another cause. 30% of white people have one dose and 5% have two. There are some correlations found by some groups but most people in the pathology community do not believe this is sufficient to explain clinical illness. I also see that you are on Methotrexate which can raise mcv, and an elevated B12 means nothing. ...Read more

See 2 more doctor answers