Your imagination could give you a lot of interpretations for the letters MTHFR. So what does that stand for and why is it in this post?
It stands for methylenetetrahydrofolate reductase. So yeah, we will stick with MTHFR. Basically, there is a fairly common mutation which can occur on this gene. Lots of people have a form of this mutation and it does not change much for them. However, as with anything in PWS, each little bit that is off just adds up.
This is a copied snipet off Google: Summary: MTHFR is an enzyme necessary for an important metabolic process called methylation. It is this process that converts folate and folic acid into an active form the body can use. The MTHFR gene produces this enzyme, but a genetic mutation can inhibit its function. I have seen the estimate of this reduction to be anywhere from 30-70 percent depending on the mutation.
So why does this matter? It is becoming fairly well known that many kids with PWS respond well to doses of B12. Some have an almost endless need for it and some other issues in the B vitamin category. Without going into details that I can't yet totally wrap my brain around let alone explain, this has led Dr. Miller to suspect that this gene mutation may be adding to the problem.
Now, I am not in any way saying that PWS causes or always includes this gene issue. More that it is a fairly common mutation in the general population but possibly, it rears it's head more strongly for people with PWS.
We know from past history, that Ayden Jane is very dependent on B12 supplementation. There are some odd responses to things in the B category that has prompted Dr. M to request that we have Ayden Jane tested for the issue. It's not a rush to get it done, just a possible additional piece to the puzzle that is Ayden Jane.
So, what if she is positive for this? I means that we may need to give her a supplement of the active form of folate because it would mean that she cannot break down synthetic folic acid. Since the B vitamins all work together and are dependent upon each other in various ways, filling this whole could then improve lots of things.
So the take away is, we will absolutely test for the mutation and supplement if she proves positive for it. It's an easy fix so why wouldn't we? I will say, I told Dr. M that my guess is Ayden Jane will test negative for the gene mutation because little Ayden Jane likes to remain a mystery and never make sense. We shall see.