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Methylenetetrahydrofolate Reductase Deficiency

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Methylenetetrahydrofolate Reductase Deficiency

On August 4, 2020, Posted by , In Uncategorized, With No Comments

I finally received my Whole Genome test results (https://sequencing.com/?rfsn=4541759.8a2bfe). It’s a wilderness of variants. I’m putting my best doctors in the driver’s seat to help interpret the results at length.

However, there is one major likely candidate that “could” explain all of “my” CSS symptoms in one if severe enough, and that is “Methylenetetrahydrofolate Reductase Deficiency. ” which involves the MTHFR gene and enzyme required to breakdown and convert a large number of vitamins and minerals to make key neurotransmitters.

It can be treated with methylated supplements like Methylfolate, Methylcobalamin, Pyridoxal-5-Phosphate, and Vitamin C & D. However, due to the condition going on for so long, there would be permanent damage that is untreatable/incurable.

This is a gene mutation I have been seeing some sufferers of CFS and FMS mention that they have as well. This condition can possibly result in conditions like chronic pain, chronic fatigue, extreme exhaustion, pins and needles, sensory processing issues, increased pain perception, depression, mood disorders, ADHD, nerve pain, cognitive decline, strange and rare side effects from medications and supplements, and the list goes on.

The standard treatment out of the box is 5-MTHF/L-Methylfolate an active form of folate that crosses the blood-brain barrier (https://amzn.to/2BXFKMD). I will keep you all updated as the doctors and I try to figure all of these results out. If you have any questions, please post a comment to this post.


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