Guest guest Posted July 20, 2009 Report Share Posted July 20, 2009 http://www.ageofautism.com/2009/07/solving-the-autism-puzzle-the-fatty-acid-ques\ tion-and-big-fat-neurons.html  Solving the Autism Puzzle – The Fatty Acid Question and “Big, Fat Neuronsâ€! By Kent Heckenlively, Esq. Let me be clear. I hate the expression “autism puzzle.â€Â The only time I’ll have the slightest affection for it is when it’s used in a sentence such as “The autism puzzle has been solved.†This article delves into theories which will hopefully bring that day closer. I don’t say the theory expressed here is true. But it's interesting. And I believe it’s worth discussion. In the recently published book, “Food and Nutrients in Disease Managementâ€, ($133 on Amazon) edited by Ingrid Kohlstadt is a chapter entitled “Autistic Spectrum Disorder: Dynamic Intervention for Neuronal Membrane Stabilization†by Kane, Ph.D, Annette Cartaxo, M.D., and Deth, Ph.D. In the chapter a number of interesting claims are made. I believe they’re consistent with the experiences of many people with autism, and if verified, provide a clear picture of what has gone wrong with the disease, and more importantly, the road out of autism and other neurological disorders. The discussion begins with evidence of neuroinflammation discovered by Dr. Zimmerman and his colleagues at s Hopkins in 2005. This neuroinflammation upsets the balance between excitatory and calming neuro-transmitters, causing the glutamate system to become overexcited and GABA production to be curtailed. This results in the development of autistic symptoms and other neurological disturbances such as seizures. Two biomarkers of this glutatmate excitotoxicity are mitochondrial dysfunction and the formation of swellings (dendritic beads) along the nerve dendrites. The authors assert that “the appearance of dendritic beads is indicative of dysfunctional mitochondria due to toxic exposure.â€Â They have also observed that calcium disregulation is also an accompaniment to mitochondrial dysfunction, leading inevitably to oxidative stress. The authors have examined the red cell fatty acid analysis run on thousands of children with autism and other disorders at the Peroxisomal Disease Laboratory of the Kennedy-Krieger Institute at s Hopkins University and concluded autism is the result of a disturbance in cellular function due to toxic insult. Specifically, there’s a build-up of very long chain fatty acids (VLCFAs) which causes impairment in the functioning of the peroxisome. The peroxisome is a cellular organelle responsible for critical cellular functions such as creating cellular fats (phospholipids), generating bile acids necessary for digestion, and breaking down very long chain fatty acids. In discussing the issue with me, Dr. Kane suggested I imagine the very long chain fatty acids as prison bars, preventing the cell from obtaining vital nutrients and minerals. The cellular fats, or phospholipids are critical for the integrity of the cellular membrane. The cellular membrane should be viewed as something akin to a port, from which the cell receives material from the outside world. If the docks aren’t in good shape then the cell can’t get the material it needs to function properly. Because of the disruption in the cellular membrane, the cell can be depleted of phosphatidylcholine, leading to a swelling of the cell. Disruption of the cellular membrane can also have an effect on mitochondrial function. The authors write, " Peroxisomal disorders are characterizes by an accumulation in tissue and body fluids of renegade fatty acids: saturated and mono-unsaturated VLCFAs (very long chain fatty acids), odd chain fatty acids, and branched chain fatty acids, pristanic and phytanic, which are normally degraded within the peroxisome, but instead can accumulate and form lipid rafts, or ceramides, which derange cell membrane structure. The accumulation of renegade or VLCFAs reflects blocked detoxification and methylation pathways, and may be characteristic in autism, PDD, seizure disorders, stroke, neurological disease and states of neurotoxicity. " In 1996 Dr. Kane had proposed that autism " may be the aftermath of a toxic insult (viral infection, acetimonophen overdose, heavy metal toxicity) evoking hepatic encepahlopathy, resulting in hyperammonenemia and suppression of several key enzymes, such as carbamylphosphate synthesase, glutamine synthesase and ornithine transcarbamylase. "  The high levels of ammonia would cause an " increase in brain water and a deterioration in neuropsychological function. "  The ammonia would also cause abnormalities in neurotransmitters and induce injury to astrocytes which are already under oxidative stress. For this and a number of other reasons, Kane believes the oxidative stress should be viewed as the result of a toxic event, rather than the cause of autism. Kane asserts that because of this, treating a patient with anti-oxidants is a little like pouring water on a house after it's already burned to the ground. She suggests " treatment should be centered on re-building membrane structure and thereby stabilizing membrane function. "  This involves clearing the body of ammonia, very long chain fatty acids, and giving the cells those building blocks which they've long been denied. Another problem which has attracted the authors’ attention is the finding of increase in the white matter in the brains of children with autism. The work of Dr. Margaret Bauman of Harvard in this area led them to theorize that the “most likely explanation for the increase in brain size is the presence of improperly formed or chemically abnormal myelin.â€Â Another researcher suggested that this difference might be the result of abnormal “myelin phospholipids.â€Â Dr. Kane explained to me her opinion that these abnormal myelin phospholipids were generated as a result of the poorly functioning peroxisome. In essence, the peroxisome is generating these abnormal fats which are then used in the creation of the myelin sheaths around the neurons. Dr. Bauman and her colleague Dr. Kemper have consistently found these enlarged neurons, which they dubbed “big, fat neurons.â€Â (The picture included with this article is of normal neurons.) When electrical impulses are sent through these neurons they don’t transmit as well as they should. This can also explain why early in a child’s life there appears to be this excessive growth in white matter, but it diminishes in later years. Although the neurons may appear to have a more normal shape as time goes on, it’s simply that these abnormal fats have atrophied over time, without any increase in function. In their work Kane and Cartaxo have also noted that about one-third of the autistic children tested have low cholesterol. Low cholesterol is yet another indicator of poor cell membrane integrity. Because of my complete dedication to you readers I had my daughter’s blood tested by the Peroxisomal Disease Laboratory of the Kennedy-Krieger Institute of s Hopkins University for the presence of abnormal fatty acids.  (Yes, you may address me by my Native American name, “Don’t-have-a-buck†for my propensity to test all of these various theories!) She tested high for levels of certain very long chain fatty acids, and also low in necessary short chain fatty acids. The short chain fatty acids are vital for the building of normal neurons. In resolving these issues it’s Kane’s approach to “burn†off the very long chain fatty acids, “build†by supplementing the short chain fatty acids necessary for proper neuron development, and “balance†the other fats. This usually involves the “intravenous administration of phosphatidylcholine (PC), folinic acid, reduced glutathione and phenylbutyrate, appropriate co-enzymes, such as vitamins and minerals, and balanced essential fatty acids (including oral supplementation with evening primrose oil, egg yolk, meat fat, sunflower oil, flax oil, high EPA fish oil, wild salmon, sardines) targeted to the patient’s individual results.†In my discussions with Dr. Kane she was also able to relate these theories to many other therapies which have been used in autism. Hyper-baric oxygen therapy (HBOT) for example is quite good for burning off the very long chain fatty acids she’s seen in many autistic children. However, it will also burn off the short chain fatty acids as well. Therefore, as a result, those children most likely to benefit are those who already have a good supply of short chain fatty acids so that they can handle the decrease. Children with seizures are more likely to have an exceptionally low amount of short chain fatty acids, and thus HBOT treatment may increase their seizure activity. The low level of short chain fatty acids from my daughter’s test also explains the failure of her stem cell treatments last year. Her body didn’t have enough short chain fatty acids to provide the raw materials necessary for the stem cells to flourish. In a similar vein, the ketogenic diet, which involves eating a great deal of fat, causes the body to burn off long chain fatty acids, but may not fully resolve the problem. This may be why approximately one-third of the children who have success on the diet have their seizures reappear after stopping the diet. The question of susceptibility genes for autism has also drawn a great deal of attention from Dr. Kane, although she notes there has been a lack of consistent findings. She observes that certain genes can lead to an increased immune reactivity due to the mother’s exposure to toxins. She has had several patients with exposure to arsenic from their city’s water supply, as well as methylmercury during fetal development from the mother’s daily consumption of white albacore tuna and swordfish. These children had gross developmental abnormalities which were resolved through the liberal administration of essential fatty acids. It is her opinion that “in-born†errors of metabolism don’t present any greater challenges than those errors of metabolism which are acquired later in life. Dr. Kane’s lipid therapy treatment has also impacted her own life. When her son was 18 months old he had a severe stroke which left him in such a debilitated state the doctors told her she should place him in an institution. She believes this happened as a result of her eating a great deal of tuna while she was pregnant and while breast-feeding. She started him on lipid therapy and within a few months he had completely recovered. But Dr. Kane is quick to observe that even though her son recovered, he still had an underlying vulnerability to environmental insults. When he went away to Syracuse University he started working with lead-based paints and also got a meningitis vaccination at the local clinic. He had what appeared to be another stroke, and began exhibiting autistic symptoms. In a panic she called her long-time friend Dr. Bernie Rimland and asked if he’d ever heard of adult-onset autism. Eventually she found cases of what looked like adult-onset autism from the cluster of cases in Minamata Bay, Japan in the 1950s. (There’s also a report in Medline of adult-onset autism in a 31 year-old man from infection by the herpes virus.) For the second time in his life, Dr. Kane’s son started on lipid therapy and he again recovered. In Dr. Kane’s view autism is best described as a disruption of cellular lipid metabolism. This disruption can be caused by heavy metals such as lead, mercury, or cadmium, pesticides, and also by viral infections. Each one of these environmental insults on its own, or in combination, can disrupt lipid metabolism. Personally, I believe Dr. Kane’s work to be an important contribution to addressing autism. She has presented her work at Columbia University, as well as many medical facilities. This work seems to be well-known, as I had no difficulty in getting my regular pediatrician to sign off on these tests. After having so many tests done at labs of unknown quality it was refreshing to see this last set being sent off to s Hopkins. I’ll keep you posted as to what happens next. Kent Heckenlively is Legal Editor of Age of Autism P.S. Lipid Detox Therapy: http://www.colecenter.com/therapies/LIPIDDETOXTHERAPY.pdf Love, Gabby. :0) http://stemcellforautism.blogspot.com/  " I know of nobody who is purely Autistic or purely neurotypical. Even God had some Autistic moments, which is why the planets all spin. " ~ Jerry Newport   Quote Link to comment Share on other sites More sharing options...
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