If you have read any of my posts over the years, you would know by now that I am fascinated by pyridoxine. It is the one variable that affects Mira's epilepsy, that I have come back to time and time again. Although she does not have the clinical markers for PDE (Pyridoxine Dependent Epilepsy), I do believe that this vitamin helps her tremendously. We have done a few trials with her over the years with her and they have been nothing but positive. Although the periods of seizure-free stretches and/or markedly decreased irritability that she experiences tend to be short-lived, pyridoxine does provide some relief for her. How and to what degree it impacts her is a bit unknown, but as I continue to research its mechanism(s) of action, I think it has everything to do with serotonin. She is currently taking pyridoxine and will continue to do so indefinitely. We have stopped giving it to her on several occasions and we ultimately see an strong spike in irritability within a few days. You can do a search on this blog for pyridoxine, B6, and/or P5P (which is the active form of pyridoxine) to give you an idea what Mira has tried and our experiences with the vitamin.
So, what does pyridoxine actually do? The Linus Pauling Institute gives a decent overview of it here. Basically, pyridoxine is responsible for over 100+ enzymatic reactions in the body, with its main function being to metabolize proteins, acting as the catalyst for enzymatic reactions of neurotransmitters in the central nervous system (CNS). Since the body cannot generate or synthesize pyridoxine, adequate levels must be achieved and maintained through diet and/or supplementation. I have read countless studies on the benefits of high dosage pyridoxine therapy in treating pharma-resistant epilepsy and PDE, with the only (and very rare) potential risk being peripheral neuropathy. I will refrain from putting on my tinfoil hat and spewing out conspiracy theories about the legitimacy of some of early flawed studies on B6 in the 1980's, that generated a peripheral neuropathy scare, via supposedly biased studies. I have read the studies and the rebuttals on the criticism of those studies - you can read the research and form your own opinion. Nonetheless, the risk does exist to some degree, but the symptoms typically resolve after dosage reduction.
The absolute, hands-down best synopsis for pyridoxine and PDE is written by Dr. Sydney Gospe, who is the authority on the subject, practicing through the University of Washington, in conjunction with Seattle Children's Hospital. Dr. Gospe's abstract through Gene Reviews can be accessed here. I have gone so far as to contact him with questions in the past and he has always responded in a very helpful manner. In fact, Dr. Gospe also guided me to some additional reading sources and to a registry of patients with PDE, both of which can be accessed here. PDE is one of the more extensively researched epilepsy syndromes that exists, with a well-documented and consistent treatment protocol. Positive identification of children with PDE in the absence of having the ALDH7A1 gene mutation, is somewhat difficult. Needless to say, Mira does not have any sort of pyridoxine dependency, but I am convinced she is benefiting from it, by it potentially helping to reduce homocysteine levels (which can promote inflammatory responses in the central nervous system) or by helping to increase her serotonin levels, or perhaps both. Again, there are so many additional reactions that pyridoxine is responsible for, but on a very basic level, it can help with balancing both homocysteine and serotonin levels.
There are also countless studies for B6 used in conjunction with magnesium for the treatment of autism, a collection of the abstracts for those studies can be found here. The pyridxone/magnesium therapy approach is one of, if not the most heavily researched and documented therapies for the treatment of autism. Trying to get Jonah (our child on the spectrum) to actually take a B6/mag supplement has been next to impossible, as pyridoxine by itself has a horribly bitter taste to it, which no amount of yogurt or juice will mask. Kirkman Laboratories has a wafer supplement available, but I have yet to try it - I have heard mixed reviews regarding the actual taste. Jonah refuses to take any sort of pill, so we are left with trying chewables or gummies, none of which we have been successful with getting him to try more than once. I will post more soon on the epielpsy-serotonin-pyidoxine-autism connections I have been researching lately. It is all very fascinating.
Mira had a really good day today - she had a ton of energy, despite not being able to get outside (it was 8 degrees this morning and didn't get much warmer) she was doing a ton of kicking. Kicking in her chair, kicking the walls in her bed, and kicking her feet the entire time she was moving inside. She also had some quality time with her toy, periodically looking outside the windows at the piles of snow everywhere. She wasn't irritable at all today - lots of smiling and just being content taking it easy around the house.