MTHFR Positive for c677T

[Aggie103c]

Does anyone have information regarding this positive test? My 16 yo ds was diagnosed with Bartonella, possible Lyme and PANDAS. Someone from his LLMD office called today to start him on a different folate/B supplement because of this positive test. I also requested the test results be sent to my home. This is all I was told so I don't know much else.

 

Thanks,

 

Aggie

[beeskneesmommy]

I don't know a lot about about, but my son tested + for the single mutation. Can you please share the type of vitamin B supplement so that I can speak to his ped. about it? I know that typical folic acid is contraindicated for these kiddos.

[LNN]

There are two different variants/mutations that are tested - A1298C and C677T. Approx 45% of the population has at least one of these mutations. When you have an MTHFR mutation, it means your body is less effective at converting (methylating) folate (vitamin B9) into methylfolate, which is the form your body needs. Having one mutation (heterozygous - shown as +/-) means you're about 60% efficient at this conversion. Being homozygous (+/+ or having one mutation from each parent), means you're only about 10% efficient at converting folate into methylfolate. This leaves your body deficient in methylfolate, regardless of how much regular folate you ingest.

 

When you're methylfolate deficient, you can't fuel the methylation process - a process that creates cell energy (ATP) and serotonin. It also leads to a build up of homocysteine, which is implicated in heart disease, stroke and macular degeneration. There's also evidence that having an MTHFR mutation may play a role in repeated miscarriages.

 

The treatment is to supplement with methylfolate. Think of it as having a body that can't squeeze orange juice when "normal" people can. If I can squeeze my own, you can give me oranges and I won't get scurvy. If I can't squeeze my own oranges, you can give me crates and crates of oranges and I'll still get scurvy. Likewise, if you have an MTHFR mutation, you can take enough folate to choke a horse but can still be methylfolate deficient. So instead, you need "pre-squeezed" or methylfolate as your supplement. Because methylfolate and B12 work as a team, people usually take both supplements, tho some people need methylB12 while others do better on hydroxyB12.

 

The trick is in finding the right dose of methylfolate. My daughter only needs 67micrograms every other day. Some adults need 5-10 milligrams daily. Depends on your mutations, your diet, your size and how other genetics interact. Start LOW and only increase the dose slowly. Too much methylfolate can produce negative behaviors as much as too little can.

 

Here's my best shot at an explanation: http://www.easytolovebut.com/?p=2782