Dr. Jared M. Skowron, ND – Owner, Spectrum Awakening
Analyzing and successfully treating MTHFR mutations is potentially the biggest change to integrative medicine in the 21st century (or at least equal with appropriate Vitamin D dosing). Correct treatment has drastically improved the lives of tens of thousands of our patients, and drastically changed the way we practice medicine. We must include DNA status as an etiology of disease with every patient.
Many of our patients can potentially have an extended lifespan as effective treatment reduces vascular inflammation, homocysteine, clot formation, and eventual emboli. Many of our patients also have improved quality of life as their emotional health is improved with increased production of serotonin and dopamine.
While adults are getting their MTHFR SNPs tested and treated, what about kids? True preventive medicine should stop disease process as early as possible, and for our children, we can intervene as early as when they’re in the womb. Let’s review the

Top 5 Reasons to Treat MTHFR Mutations in Pediatrics

#1 Congenital heart disease and cardiac malformations are directly related to MTHFR mutations. Women who are considering pregnancy, that have an MTHFR mutation or if the child’s biological father has an MTHFR mutation, should have 5-MTHF as part of their prenatal supplementation. Prenatal vitamins with 5-MTHF are available, or 5-MTHF can be added to a prenatal supplementation regimen. Since heart formation occurs so early in embryological development, mothers should be supplementing before they know they are pregnant, or it may be too late to prevent congenital heart disease.1
#2 Cleft lip and cleft palate are directly associated with a mother who has homozygous C677T status. Women who are considering breastfeeding should have DNA analysis performed and treat preventively with 5-MTHF included in their regimen. In general, a multivitamin with 5-MTHF should be considered for any woman considering pregnancy, even if DNA testing has not been performed.2
#3 One of the most common childhood diseases on the rise is ADHD. A whopping 11% of the US population, or 6.4 million children (2011 CDC data) have been diagnosed with ADHD. While behavioral therapy and appropriate medication are cornerstones of conventional treatment, we should look further into the cause of every condition. Dietary changes, including the reduction of processed sugar and artificial colors are beneficial for many, but let us not forget the genetic component. MTHFR mutations, in A1298C, not C677T, are linked to an increased risk of ADHD. Interestingly, non-stimulant drugs for ADHD work by increasing norepinephrine to improve focus and attention. Proper MTHFR function is necessary to maintain normal norepinephrine levels.3
#4 The next expanding condition affecting our children is the autism epidemic. While symptoms of autism differ in children, problems with cognitive development, social development, sensory-processing issues, and motor control are affecting tens of thousands of kids. The terms Autism, PDD-NOS, Asperger’s, SPD, ASD, and Anxiety may be used, but without objective understanding of the neurological process behind these terms, there is a lot of overlap in symptoms and diagnosis. Unfortunately many children are being diagnosed by health professionals within school systems, and these schools have a limited budget to handle the growing number of kids with special needs. Children are not being diagnosed appropriately so that the school systems don’t have to expend money that they don’t have. It is a sad reality that more children are sick and not getting the treatment they deserve. Luckily, these children can be treated effectively without a diagnosis, but rather by treating their genetic mutation. A 2013 Meta-Analysis stated C677T mutations are highly correlated with Autism Spectrum Diagnoses.4
#5 Lastly, and not surprisingly, another pediatric neurological condition has an MTHFR mutation relation. Certain seizures, specifically a subtype called folinic-acid responsive seizures (FARS), can be treated with 5-MTHF as an effective treatment. Appropriate 5-MTHF doses improve social interaction, mobility, and seizure control. Use caution, as some seizure subtypes worsen with 5-MTHF supplementation.5
After reviewing this list, you may be thinking, what child wouldn’t benefit from 5-MTHF? Two considerations must be taken. First – compliance. Children are picky, especially when it comes to tastes, and they don’t often swallow big pills. Good tasting powders are the easiest way to conceal supplements into children’s drinks, foods, or even ice-tray popsicles.
The second consideration is those who get more hyperactive, aggressive or have other side effects from 5-MTHF supplementation. These people often have other genetic mutations, such as COMT or MAO, and cannot metabolize the adrenaline they produce when they take 5-MTHF. A great way to prevent this is to take GABA and a small dose of 5-HTP with 5-MTHF supplementation. These amino acids will upregulate GABA agonist activity, upregulate serotonin production, and downregulate adrenaline production, giving a better response than 5-MTHF alone.
Treating kids is tricky, as we often are working with their needs and the needs of the parents, teachers, and other caretakers. The great thing is that as knowledge increases, so do our treatments. What we didn’t have ten years ago, we have today. Imagine what we’ll have in another ten.

1 Shi H, Yang S, Liu Y, et al. Study on Environmental Causes and SNPs of MTHFR, MS and CBS Genes Related to Congenital Heart Disease. PLoS One. 2015 Jun 2;10(6):e0128646. doi: 10.1371/journal.pone.0128646.
2 Pan X, Wang P, Yin X, et al. Association between Maternal MTHFR Polymorphisms and Nonsyndromic Cleft Lip with or without Cleft Palate in Offspring, A Meta-Analysis Based on 15 Case-Control Studies. Int J Fertil Steril. 2015 Jan-Mar;8(4):463-80.
3 Gokcen C, Kocak N, Pekgor A. Methylenetetrahydrofolate reductase gene polymorphisms in children with attention deficit hyperactivity disorder. Int J Med Sci. 2011;8(7):523-8.
4 Pu D, Shen Y, Wu J. Association between MTHFR gene polymorphisms and the risk of autism spectrum disorders: a meta-analysis. Autism Res. 2013 Oct;6(5):384-92. doi: 10.1002/aur.1300.
5 Al-Baradie RS, Chaudhary MW. Diagnosis and management of cerebral folate deficiency. A form of folinic acid-responsive seizures. Neurosciences (Riyadh). 2014 Oct;19(4):312-6.

*These statements have not been evaluated by the Food and Drug Administration. This product is not intended to diagnose, treat, cure or prevent any disease.