SCIENCE

MTHFR: A Common Gene Variation That Can Affect Folate Use

3 min read
Essential Takeaways

• Many children and adults carry changes in the MTHFR gene. Studies suggest that about 30 to 40 percent of people have at least one variant. This can make it harder for the body to convert folic acid, the synthetic form of folate, into its active form.*

• L-methylfolate (5-MTHF) is the bioactive form of folate. It is already converted and ready for the body to use, which can be especially helpful for people with MTHFR variants.*

A Formula Made With Active Folate

We use methylated folate in the form of 5 MTHF, the bioactive form of folate. This form is already converted so it bypasses common MTHFR gene variations that can make turning folic acid into usable folate harder for many people.*

 

Shop Methylfolate

Genes influence how the body processes nutrients, and folate is one of the most important examples. Folate, or vitamin B9, is needed for healthy DNA production, brain development, and energy metabolism. It is especially important for growing children and for anyone supporting normal neurological function. A common genetic variation called MTHFR can make it harder for the body to convert folic acid, the synthetic form of folate found in many supplements and fortified foods, into its active form. Studies show that about one-third of people may have this variation, which can affect how the body makes and uses folate. For both kids and adults, making sure the body gets folate in a form it can use right away is important. That is why many clinicians recommend L-methylfolate, the bioactive form of folate that bypasses the MTHFR step and supports healthy brain and nervous system function.*

Why MTHFR Matters.

Folate, also called vitamin B9, is vital for DNA production, nervous system health, and making neurotransmitters that affect mood, attention, and energy. Children need it for healthy brain development and adults need it for normal methylation and metabolism. The MTHFR gene makes an enzyme called methylenetetrahydrofolate reductase. This enzyme’s job is to turn folate into its active form, L-methylfolate (5-MTHF). When someone has an MTHFR variant, this process may work less efficiently. That means folic acid, the synthetic folate used in many vitamins and fortified foods, may not be fully converted into the form the body can use. Low active folate can affect focus, mood balance, and healthy development. Researchers have found that children with neurodevelopmental differences such as autism and ADHD may be more likely to show changes in folate metabolism.*

L-Methylfolate: The Active Form

L-methylfolate is already in the form your body needs. It bypasses the MTHFR conversion step, helping support normal methylation, balanced homocysteine levels, and the production of important brain chemicals like serotonin and dopamine.* While methylfolate is not a cure for autism or ADHD, studies suggest it may support healthy neurological function, attention, and mood, especially in individuals who have difficulty processing synthetic folic acid.*

Testing for MTHFR

Genetic testing can confirm if you or your child has an MTHFR variant, but it is not required before using active folate. Many families and clinicians choose L-methylfolate because it is safe and effective regardless of genetic status.*

References:

1. “MTHFR Gene Variant and Folic Acid.” Centers for Disease Control and Prevention, 8 Nov. 2022, https://www.cdc.gov/folic-acid/data-research/mthfr/.

2. “Folate - Consumer.” Office of Dietary Supplements, National Institutes of Health, 26 Mar. 2021, https://ods.od.nih.gov/factsheets/Folate-Consumer/. 

3. “MTHFR Gene: MedlinePlus Genetics.” Medlineplus.gov, 1 Oct. 2019, https://medlineplus.gov/genetics/gene/mthfr/.

4. “Treatment of Folate Metabolism Abnormalities in Autism Spectrum Disorder.” Seminars in Pediatric Neurology, 25 Jun. 2020, https://pubmed.ncbi.nlm.nih.gov/32892962/.

5. “Association Between MTHFR C677T/A1298C and Susceptibility to Autism Spectrum Disorders: A Meta-analysis.” BMC Pediatrics, 24 Sept. 2020, https://pubmed.ncbi.nlm.nih.gov/32972375/.

Meet Our Expert

Dr. Neeta Jain, MD Pediatrician, Developmental & Behavioral Specialist

Dr. Neeta Jain earned her medical degree from Lala Lajpat Rai Medical College in Meerut, India, and completed training at Lucile Packard Children’s Hospital at Stanford and residency at Cook County Hospital in Chicago. She holds certifications from the Autism Center of Excellence and STAT-MD training for early autism diagnosis from the Vanderbilt Kennedy TRIAD Center. With over twenty years of pediatric experience, she specializes in developmental and behavioral care, including autism, ADHD, and other childhood challenges.

Meet the Author.

Amelia Rhodes, Writer.

Amelia Rhodes is an experienced writer and journalist with a strong background in health, nutrition, and wellness. A Magna Cum Laude graduate of New York University with a Bachelor of Arts, she has contributed to leading publications including Vogue, Elle, Byrdie, and The/Thirty. After years in editorial work, including serving as a wellness editor, she transitioned her expertise in storytelling and content creation into a successful marketing career.