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Dr. Andrew Rynne
MD
Dr. Andrew Rynne

Family Physician

Exp 50 years

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What Are The Signs And Symptoms Of MTHFR Mutation?

i was diagnosed with MTHFR mutation and was prescribed Deplin...was told it was a medical food I needed but after reading what it also treats was a little freaked out as I do not have any of those disorders...what is the MTHFR gene doing wrong in my body that I need Deplin for
Tue, 10 Mar 2015
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General & Family Physician 's  Response
Welcome to HCM
This is Dr Amit. Methylenetetrahydrofolate reductase (MTHFR) gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate.
A defective enzyme causes an accumulation of homocysteine in the blood resulting in very high levels. Elevated levels of homocysteine show an increased risk for
(1) hardening of the arteries (atherosclerosis), which could eventually result in a heart attack and/or stroke,
(2) blood clots in the veins, referred to as venous thrombosis.
In Addition to it there are chances that genetic variation in this gene may influence susceptibility to occlusive vascular disease, neural tube defects like spini bifida, anencephaly,colon cancer and acute leukemia because mutations in this gene are associated with methylene tetrahydrofolate reductase deficiency.
Deplin contains methylfolate form of folic acid which will help to metabolize homocysteine and decrease the adverse effects occuring due to increased level of homocysteine as well as due to MTHFR mutation.
Hope i have given satisfactory answer to your question
Regards
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Note: For detailed guidance on genetic screening consult a genetics specialist
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What Are The Signs And Symptoms Of MTHFR Mutation?

Welcome to HCM This is Dr Amit. Methylenetetrahydrofolate reductase (MTHFR) gene provides instructions for making an enzyme called methylenetetrahydrofolate reductase. This enzyme plays a role in processing amino acids the building blocks of proteins. Methylenetetrahydrofolate reductase is important for a chemical reaction involving forms of the vitamin folate. A defective enzyme causes an accumulation of homocysteine in the blood resulting in very high levels. Elevated levels of homocysteine show an increased risk for (1) hardening of the arteries (atherosclerosis), which could eventually result in a heart attack and/or stroke, (2) blood clots in the veins, referred to as venous thrombosis. In Addition to it there are chances that genetic variation in this gene may influence susceptibility to occlusive vascular disease, neural tube defects like spini bifida, anencephaly,colon cancer and acute leukemia because mutations in this gene are associated with methylene tetrahydrofolate reductase deficiency. Deplin contains methylfolate form of folic acid which will help to metabolize homocysteine and decrease the adverse effects occuring due to increased level of homocysteine as well as due to MTHFR mutation. Hope i have given satisfactory answer to your question Regards