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  • Nancy Mullan, MD

Prevention for MTHFR Related Birth Defects

Updated: Jan 23, 2020

MTHFR mutations can have serious implications for women wanting to conceive. An MTHFR mutation is a known cause of infertility. If you are having trouble conceiving or maintaining a pregnancy, your doctor is likely to check for this mutation. Methyl groups are critical for good estrogen balance. Good estrogen balance in turn impacts your ability to ovulate and conceive. See MTHFR Mutations and Estrogen Balance for more detail on this.

If you have too few methyl groups and you are already pregnant, you are at risk for having a child whose spinal cord does not fuse properly, a child with a neural tube defect, or spina bifida. The problems this can cause range from no symptoms whatever to severely disabling conditions. It is worthwhile to know your MTHFR status when you are considering getting pregnant.

Currently all OBGYNs now recommend folic acid for their patients. Doctors who know their patient has an MTHFR mutation or who have more sophisticated information in this area will recommend 5 methylfolate. The kind of folate needed for methyl group formation is the 5 methyl form. The MTHFR mutation reduces the production of this form of folate. For almost too much information on this area of folate biochemistry, see MTHFR C677T and the Many Forms of Folate. It's not that hard or complex. Just take enough 5 methylfolate for you. 

There are many other reasons to get folate biochemistry right for yourself and your children. Insufficient methylation can impair your child's ability to grow. Additionally, one of the causes of Attention Deficit Disorder or Attention Deficit Hyperactivity Disorder is improperly regulated dopamine and/or norepinephrine levels. These important neurotransmitters are deactivated by methyl groups. Methyl groups are also involved in the metabolism of tryptophan, the precursor to the neurotransmitter serotonin. And methylation is also involved with the formation of melatonin, the important biological rhythm and sleep inducer.

Insufficient methylation may lead to abnormal myelin formation, impaired nervous impulse transmission, and the improper pruning of nerve fibers as development progresses. Methylation is essential for neuronal cell survival, development, function, and longevity. It is necessary for neuronal plasticity. Nerve cell membranes need to be methylated in order to be sufficiently fluid for receptor site activity and the transmission of impulses and substrates. Methylation exerts a central biological regulatory activity that maintains important function in your body.

I have a free, downloadable ebook on my website that explains methyl groups and methylation. Click here to download your free ebook.

If you want expert help personalized to your unique body chemistry, you can consider getting an Exploratory Conversation with me. This is a 30-minute conversation in which I will listen to your health issues, review your test results if you have any, and make recommendations about what I think you should do. You can tell me all of the things you have tried and I will give you my input about what you can consider next.

The fee for this service is $129. It is easy to set a time for this conversation, and it can save you weeks or months of doing the wrong thing, lurching around in the dark with a clinician who doesn’t know anything about the genetics or molecular biology of MTHFR. You may be dealing with conditions in your body that are confusing and difficult to understand. I can help you cut through all of that and give you clarifying input that moves you in the right direction.

I look forward to being able to help,

Dr. Mullan

What people like you are saying about Dr. Mullan’s work:

I shudder at the thought of what my family would be like without Dr. Mullan. Thankfully, with her help, we have stopped my husband's chronic 30 year battle with kidney stones. He is no longer forming them and is stone free. My thyroid is now working normally, my body temperature is almost normal and my hair has grown back. My oldest daughter's Autism is in the process of being reversed and her hair pulling has stopped. The greatest blessing from our good health is the birth of my second daughter Ava, now one-year-old. At 50 years old I carried her to term. One of my doctors commented to me saying “ you are carrying this baby like a 22-year-old.” Yes, I am because of Dr. Mullan and working on my methylation pathway. One by one she is knocking off symptoms and bringing us back to health. The future is bright! Thank you, Dr. Mullan, for the work you do.


Wow. I feel great. Thank you for your help. It's amazing really. Like a light turned on. Curious to see what the next tests show. To ride this peak indefinitely is my goal. Ha. I have energy again. Yay!

Really grateful,


I am so relieved. My daughter is doing SO WELL since we started with you! We have been to so many doctors and tried so many things.Now I can start working on my own program with you....


So excellent! I literally learn something every single time and I get clarification on things that have been lingering in my mind… VB

You are giving people a huge gift by empowering them… It’s about helping the patient become their own healer by taking them to a higher level of consciousness… AL

Thank you so much, Dr. Mullan. Thank you so, so much for everything you do. MS

Wow! I have to tell you, this was such an uplifting session. It’s so nice to hear good news, especially about a child. Anxiety, OCD and a host of other mental/psychiatric symptoms have been a huge hurdle for me. So to hear this story of all those awful symptoms totally going away is such a bright light for me!!!! TR

Fantastic, caring, smart, savvy doc. I worked with Dr. Mullan for a couple of years to help MTHFR mutations and their associating expressions! To say the least! She's brilliant. At that time she had weekly calls for her patients - free - where we could ask questions and she would reply. What doctors do this? She does. She's also an animal lover and is right on about the way she practices medicine. I highly recommend her. In good health!


"Dr. Nancy Mullan is a beautiful person. She is an expert in her field and has helped our family so much. I am very grateful to her. She came highly recommended and I know why. I would recommend her and her website for information re: healing from a genetic point of view. Thank you, Dr. Mullan, for everything.”


"Dr.Mullan has helped me with issues that I have struggled with for years. She is knowledgable and practical. I would recommend her to others.”


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