Patient's Query
Hello doctor,
I am 5 weeks pregnant and I have MTHFR and PAI mutations. My doctor recommended me to take Folic acid. I read it should be avoided during MTHFR pregnancies. Along with that I am on Prozac and Euthyrox. What do you think? What should I do? Please help.
Hi,
Welcome to icliniq.com.
Truly speaking, MTHFR - methylene tetrahydrofolate reductase mutations are widely spread and all most one half of the population is having or carrying these mutations by different extent. By different extent, I mean to say, various levels of affection or involvement that is from very insignificant disease to severe disease. I do want to know that in which category you are now. This is fairly judged by the serum levels of homocysteine, which is the protein that is increased in the blood. If you have a severe MTHFR defect, then you need to avoid Folic acid and also need to screen some fetal congenital defects like spina bifida or anencephaly at an earliest. But, if you do not have any specific symptoms with this mutation, then there is no harm to take these vitamins. PAI mutations (plasminogen activator inhibitor) could result in abnormalities in blood clotting disorders. This actually poses no bar for taking Folic acid in pregnancy state.
Patient's Query
Thank you doctor,
I have C677T heterozygous mutation and A1298C heterozygous mutation. I do not know what it means or how severe it is. I am asymptomatic and I just discovered it by chance a while ago.
Hello,
Welcome back to icliniq.com.
Now, it is a bit clearer. There are different variations of MTHFR gene and among which C677T and A1298C are the commonest. If you were only heterozygous for any of them, then the matter could have been a bit subdued and your enzyme activity would be 60 % of the normal. But, as you have both the genes in the heterozygous state, the problem might be there inside you and might be a bit complicated. You need an urgent consultation from an endocrinologist and a genetic specialist to assess your health status. You need screening for a few diseases right now.
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Answered byDr. Sanjay Kumar Bhattacharyya
Medically reviewed byiCliniq medical review team
Same symptoms don't mean you have the same problem. Consult a doctor now!
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