Monday, January 21, 2008


As part of being in a nerdy, geeky family Kenji will most likely confuse his grade school teachers. Lately the primary topic at my parents house (which we go to every Sunday for dinner) has revolved around a particular genetic defect. The defect or shall we call it abnormality is in the MTHFR gene. MTHFR standing for methyltratrahydrofolatereductase. And we also tend to bounce around words such as L-methylfolate, methylcobalamin, P5P, etc.

Now this will become most distressing to Kenji's teachers when Kenji is trying to explain the odd shots he has to get on a regular basis. For now he gets it through mom's milk and mom is on the shots.

Most people having read to this point are now asking what MTHFR deficiency means. Well it so happens we don't fully know. However several studies published and ongoing link it with Autism Spectrum Disorder, hereditary depression, hereditary migraines, fatigue, elevated homocystine levels (related to diabetes control and/or occurance). As I stated the research is only really picking up in the last few years.

On a personal level, I have at times been diagnosed with chronic depression, PLMS (periodic leg movement syndrome), and general fatigue. Being on the recommended treatment for MTHFR I have been able to stop all medications related to those problems. The treatment I am taking is methylcobalamin shots, or in simpler terms activated B12 vitamin. As active b12 is destroyed in the stomach lining[Edit: more like not absorbed than destroyed per se], and cannot be reliably absorbed through mucus membranes in quantity, it is administered by sub-cuntanious injection (like an insulin shot).

What is interesting is to note how this effects babies. As a baby I needed suppositories on a regular basis to keep me regular. Kenji exhibits this same problem of severe constipation. With the knowledge of MTHFR, which my wife and I have on both genes, we both take the shots. After receiving the shot, and subsequent feeding, our sun poops just fine. So we have increased the frequency and decreased the amount per shot, to help with that.

Now what I have mentioned here is tame compared to the bio-chem discussions at my parents, fueled by the fact my father is a medical doctor and my brother training to become one. Not to mention the fact we now have a lot of the extended family on the shots and a prescription vitamin supplement (MetaNX, contains l-methylfolate, P5P, and methylcobalamin). We also have been looking at other factors involved, and hope to prevent issues later because of it.

It is being studied to see if autism is caused by a combination of the MTHFR gene defect with mercury and other heavy metal poisoning. Sadly immunizations given to children over the age of 3 still contain mercury, and so do most flu vaccines. The MMR vaccine administered to children is possibly the cause of some cases of intestinal disbiosis (leaky gut syndrome) in people with the MTHFR defect.

NOTE: I am not a doctor nor do I recommend anything or pretend to be an expert, but it is interesting because we are so technical in my family. I think it will be funny and frustrating that my son will most likely tell his teachers these things and they will assume he is making them up or lying. Having been told by adults when I was young that Koalas don't have pouches after I told them that they do, they assumed me lying or making things up. It is quite infuriating.