MTHFR stands for methylenetetrahydrofolate reductase. It is an enzyme that helps in breaking amino acids into homocysteine and folate. A genetic mutation causes high levels of homocysteine in the blood with low folate levels and other vitamins. It can cause serious problems in the body like homocystinuria, anencephaly, spina bifida, and others. The symptoms of MTHFR mutation are bipolar disorder, schizophrenia, pain and fatigue, and colon cancer. It is treating by taking folate and vitamin B 12 supplements and lifestyle modification.
All the answers published in this website are written by Verified medical doctors, therapists and health experts. The Content has been moderated by iCliniq medical review team before publication. Post your medical clarifications on iCliniq by choosing the right specialty and get them answered. Your medical queries will be answered 24/7 by top doctors from iCliniq.
Query: Hi doctor, I am a 43-year-old female with a history of four recent miscarriages in the past 11 months, two chemical pregnancies, one blighted ovum, and one miscarriage at 7.5 weeks after heartbeat not seen at the second ultrasound. I recently discovered I am heterozygous for Factor-2 Mutation, and ... Read Full »
Answer: Hello, Welcome to icliniq.com. I understand your concern. Clotting factors 1 to 13 are normally present in our body to aid in clotting and bleeding mechanisms in case of injury. The gene that codes for these proteins are inherited from both parents, and any mutation in this will lead to changes in... Read Full »
Query: Hello doctor, I need help to understand the attached breast ultrasoud. I also have the MTHFR gene mutation inherited from both parents and want to know if it will affect my lymphocyte count to be high. I am taking Maxalt for migraines. Read Full »
Answer: Hi, Welcome to icliniq.com. I have seen the attached report (attachment removed to protect patient identity). MTHFR gene mutation is not an independent risk factor for breast carcinoma. The association between this gene mutation and breast malignancy is not fully understood. However, in your att... Read Full »
Query: Hello doctor, My son is 19 months old and his blood count and neutrophils came back low. He has MTHFR 1298c homozygous and would like some advice on what can it be? He is currently on vitamin B supplements. Read Full »
Answer: Hi, Welcome to icliniq.com. I can understand your concern. According to your statement, your son recently has done a blood report and revealed that blood count and neutrophil count are low. MTHFR A 1298C has implicated homocysteine metabolism as well as the folate cycle. It is a genetic disorde... Read Full »
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. Read Full »
Answer: 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 tha... Read Full »
Query: Dear Doctor, I am trying to figure out what is wrong with my 15 year old daughter. Her symptoms have developed most significantly over the past few months, and include depression, weakness, constant light-headedness, shortness of breath (even when sitting still), difficulty taking a deep breath (ca... Read Full »
Answer: Hi, It is really sad to know about your daughter. 1. As a matter of fact your daughter seems to have acute thyroiditis. Though the thyroid profile has not shown full blown thyrotoxic state, she has subclinical hyperthyroidism with TSH being suppressed. Since how long has she been like this? Thyroidi... Read Full »
Query: Hello doctor, I have genetic mutation MTHFR. I am on thyroid for hypothyroidism. My B12 level is 1476, the normal range is between 138 to 652 pmol/L. How can I lower my B12 level? Is this level a cause for concern? All the other blood levels are normal other than WBC which is at 3.4 and neutrophils... Read Full »
Answer: Hello, Welcome to icliniq.com. It is essential to know the primary reason for vitamin B12 testing. Was it done due to any complaints that could be related to anemia like fatigue, malaise, or any other symptoms that could be related to thrombotic complications possibly due to the inherited MTHFR ... Read Full »
Query: Hi doctor, I am 29 years old. I have memory problem since I was a boy. I think it may be genetic as my mother also has the same problem. But my mother is not so worse, like me. Three weeks ago, I have started taking ayurveda medicine Mentat for memory my memory issues. All was well for about three w... Read Full »
Answer: Hello, Welcome to icliniq.com. Day-to-day forgetfulness can be seen in normal individuals too. Distraction due to day-to-day stress, depressed mood, poor nutrition, etc., can lead to memory problems. If you have feelings that your memory is getting worsened, then you should go for mini mental status... Read Full »