The Impacts of Folic Acid on unborn babies, that every parent should be aware of.
- Claire Wood
- Aug 31, 2024
- 3 min read

Understanding the MTHFR Gene Mutation and Its Impact on Health
The MTHFR (methylenetetrahydrofolate reductase) gene mutation is a common genetic variation that affects approximately 60% of the UK population. This mutation can have significant implications for health, particularly in how the body processes folate (vitamin B9) and homocysteine, an amino acid. Understanding this mutation and its effects is crucial for maintaining health and ensuring the well-being of future generations.
What is the MTHFR Gene Mutation?
The MTHFR gene provides instructions for making an enzyme that plays a critical role in processing amino acids, the building blocks of proteins. This enzyme is particularly important for converting homocysteine into methionine, a process that requires folate. When there is a mutation in the MTHFR gene, this process can be disrupted, leading to elevated levels of homocysteine in the blood, a condition known as hyperhomocysteinemia.
Health Implications of the MTHFR Mutation
Elevated homocysteine levels due to MTHFR mutations can lead to various health issues, including:
Cardiovascular Diseases: High homocysteine levels are associated with an increased risk of heart disease and stroke..
Neurological Issues: Elevated homocysteine can contribute to brain fog, low energy, and even Alzheimer’s disease..
Pregnancy Complications: Women with MTHFR mutations are at a higher risk of miscarriage, preeclampsia, and having babies with neural tube defects such as spina bifida and anencephaly.
The Impact on Developing Foetuses'
For pregnant women, the MTHFR mutation can have serious implications for the developing foetus. Proper folate metabolism is crucial for foetal development, particularly in the early stages of pregnancy. Insufficient folate can lead to neural tube defects, which affect the brain and spine of the developing baby.
The Risks of Excessive Folic Acid
While folate is essential, too much folic acid (the synthetic form of folate) can also be problematic. Excessive folic acid intake has been linked to potential issues such as:
Autism: Some studies suggest a correlation between high levels of unmetabolized folic acid and an increased risk of autism in children.
Other Health Issues: Overconsumption of folic acid can mask vitamin B12 deficiency, leading to neurological damage3.
One of the most significant risks of excessive folic acid intake is that it can mask a vitamin B12 deficiency. Vitamin B12 is crucial for nerve function and the production of red blood cells. A deficiency in B12 can lead to:
Neurological Damage: Symptoms include numbness, tingling in the hands and feet, balance problems, and cognitive disturbances such as memory loss and confusion.
Anemia: This condition, known as megaloblastic anemia, results in the production of abnormally large and dysfunctional red blood cells, leading to fatigue, weakness, and shortness of breath.
When high levels of folic acid are present, they can correct the anemia caused by B12 deficiency without addressing the underlying neurological damage, potentially leading to severe and irreversible harm.
Potential Cancer Risks
There is some evidence to suggest that excessive folic acid intake might be linked to an increased risk of certain cancers. This is because folic acid can promote the growth of existing cancerous cells. Studies have indicated potential associations with:
Colorectal Cancer: High levels of folic acid might increase the risk of colorectal cancer in individuals with pre-existing neoplastic lesions.
Prostate Cancer: Some research suggests a possible link between high folic acid intake and an increased risk of prostate cancer.

The Importance of Genetic Testing
Given the potential health risks associated with the MTHFR mutation, genetic testing can be a valuable tool. Testing can help identify whether you carry the mutation and guide you in managing your health and pregnancy more effectively. Here’s why it’s important:
Personalized Nutrition: Knowing your MTHFR status can help tailor your diet to ensure you get the right form and amount of folate. For instance, individuals with the mutation may benefit more from methylfolate supplements rather than folic acid2.
Preventing Health Issues: By managing homocysteine levels through diet and lifestyle changes, you can reduce the risk of cardiovascular diseases and other health problems1.
Healthy Pregnancy: For women planning to conceive, understanding their MTHFR status can help in taking the necessary steps to ensure adequate folate levels, reducing the risk of birth defects.
Conclusion
The MTHFR gene mutation is a common genetic variation that can have significant health implications. By understanding this mutation and its effects, and through genetic testing, individuals can take proactive steps to manage their health and ensure the well-being of their offspring. Personalized nutrition and careful management of folate intake are key strategies in mitigating the risks associated with this mutation.
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