Analysis and Facts:
The majority of vitamin B6 dependent seizures appear from a deficiency in enzyme a-aminoadipic semialdehyde dehydrogenase.
This appears to cause a depletion of B6, pyridoxal phosphate, the active form of B6.
Clinical features may include chronic breakthrough seizures, self-injurious behavior in autistic patients.
Diagnostic testing to help illuminate pathology of SIB and EPILEPSY in autistic patients may include: Pyridoxine trial. Plasma and cerebrospinal fluid pipecolic acid. Urine a-aminoadipic semialdehyde. ALDH7A1 sequencing.
The disorder is rare.
Linked to intractable seizures in patients with autism and self-injurious behavior.
Disorder basically inhibits binding of B6 to glutamic acid, which is needed for GABA biosynthesis.
Source: (Journal of Child Neurology 2000: 15, 763-765)
I lost faith in a lot of autism research studies, but this is an area where I strongly believe the most hope has been offered in many years of "autism research".
No doubt: MORE FUNDING needed for researchers studying the link between metabolic and mitochrondrial issues in autism, epilepsy and aberrant behaviors--- is desperately needed.
September 14, 2015
August 25, 2015
A 2014 study published in the Egyptian Journal of Medical Human Genetics shows the lower the plasma amino acid levels in autistic patients--the more severe the autism.
What's interesting is that a 2012 study shows that specific individual amino acids are blocked from being absorbed in some people with severe forms of epilepsy.
Why would an autistic person with epilepsy fail to absorb a specific amino acid?
How would you diagnose this? Genetic testing? Serum amino acid profiling?
The only research I can find that vaguely answers this question is on a Middle Eastern family with a genetic mutation that blocks absorption of a specific amino acid (the article doesn't tell us which amino).
Apparently, supplementing the specific amino acid(s) being blocked, seems to reduce seizure activity in these patients. (See San Diego Union Tribune, Monday, July 20th, 2015 article titled, "Groundbreaking Neurogeneticist Drawn to Rady's New Institute.")
There's also recent research showing essential amino acid D-leucine being a potent anti-seizure amino acid.
I hate to be the breaker of bad news, but from the countless hours I have researched autism and epilepsy it seems there are studies dated back to the 1960's in the area of amino acid dysregulation, so I'm baffled as to why there isn't more effective treatment in 2015 for autism and/or epilepsy.
Amino Acids for epilepsy have been studied for years. Drug patents are pending.
Is it because of money (drug patents), lack of funding? Somebody wants to make money off this while thousands of people are suffering from intractable seizures?
If so, then the love of money [truly] is the root of all kinds of evil. 1 Timothy 6:10