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Disorders leading to Autism

When you read the research it eventually becomes clear that "autism" is just a bunch of symptoms, rather than a single disease.  So autism, as such, has no cure.  A specific cause of autistic symptoms in a particular person, may indeed have a remedy, but most sadly do not.

Many causes of autistic symptoms though will have therapies that can reduce and help manage the symptoms.  Combine this with the neuroplasticity of the brain and behavioural therapies and a clear way forward emerges.

You will see below that oxidative damage is the main culprit.  In the more rare disorders, a genetic mutation is invariably the cause, but even a mosquito can be guilty.















































































Notes


Oxidative Brain Injury Comments
Classic Autism In utero malformation of cerebellum following oxidative shock.
Ongoing neuroinflammation. Mixed outcome.
Regressive Autism As for classic autism, but with a shock event that triggers inceased inflammation and prompts regression.  Mixed outcome.

Asperger's Mild case of classic autism. Prognosis if usually good.
ADHD Mild case of classic autism. Prognosis is good.
Neurological Complication of Parasitic Disease
Cerebral Malaria Shock inflammation of the cerebellum causes massive damage.
Treatable if detected early
Unknown
Childhood disintegrative disorder Cause unknown, causes complete loss of all skills
onset between 2 and 10 years old
Genetic mutations/malfunctions
tuberous sclerosis complex (TSC) Multi organ genetic disorder
Rapamycin is used to shrink the tumors.
Rett Syndrome Subjects are mainly girls, male fetuses rarely survive.
Prognosis is often poor.
Fragile X Neurodegeneration increases in middle age.
Phenylketonuria Treatable if detected early
Adenylosuccinate lyase deficiency Viewed as untreatable
Guanidinoacetate Methyltransferase Deficiency (GAMT)
Creatine deficiency syndromes

Arginine: Glycine Amidinotransferase Deficiency (AGAT) Treatment of oral creatine supplementation can improve 
symptoms, if initiated early, in GAMT and AGAT patients.
Treatment for CRTR patients, oral creatine supplementation’s 
Creatine Transporter Deficiency (CRTR) therapeutic effects are limited.
Smith–Lemli–Opitz Syndrome inability to produce or synthesize cholesterol due to
mutation of the DHCR7 gene. Treatable with cholesterol 
Biotinidase deficiency treatable with biotin
Infantile Neuronal Ceroid Lipofuscinoses very rare and fatal
Sanfilippo syndrome possible treatment with flavonoid GENISTEIN
Histidinemia Rare generally, except in Japan
Succinic semialdehyde dehydrogenase deficiency (SSADHD) Defect in ALDH5A1 gene, causes defect in GABA pathway
Dihydropyrimidine dehydrogenase deficiency (DPD deficiency) Genetic mutation of DPYD gene




17 comments:

  1. Hello Peter,
    Since we parents should target at oxidative damage, I've made a simple treatment plan to start with and would like you to have a look at it and comment if necessary.
    Now I thought I should visit a local lab and check C6PD deficiency which affects GSH and NADPH and could lead to oxidative stress. Do you think that a local lab might be ok for some preliminary or even final results?
    While testing blood and urine what else do you think I should check in order to have a basic clinical autism profile?
    Next I am trying to get Omnium out of his supplementation- Nac works fine- for two basic reasons:
    1. If there is a C6PD deficiency, vitamins C and K are triggers and Omnium has good amounts of them.
    2. As you said Omnium has numerous things so I would never find out what is beneficial and anyway benefits usually come with greater dose than normal.
    Thanks
    Petroula

    ReplyDelete
    Replies
    1. Hello Petroula,

      There are so many things you could test. One good thing would be GSH/GSSG ratio, this is likely the best measure of oxidative stress. Just you would have to stop NAC and Omnium for a few days first to have the base case.

      You could check uric acid, this is something from a future post:-

      "A subclass of patients with classic infantile autism have uric acid excretion which is >2 S.D.s above the normal mean. These hyperuricosuric autistic individuals may comprise approx. 20% of the autistic population."

      This is treatable.

      I would check potassium, magnesium and zinc. All three seem to be very relevant.

      You could test IL-6, serotonin and IGF-1.

      You could test many other things as well, but it will cost a lot and may not really help.

      Delete
    2. Hi Peter, thank you for your information.
      Peter, when you say I should stop Nac before checking blood and urine, do you mean just for the oxidative stress or for the whole list of the other things you mention? Unfortunately I can't stop Nac for the time being.
      Petroula

      Delete
    3. It is probably most useful to know the status unmedicated, then you measure the effect of the pills. But clearly stopping the pills may not now be possible.

      Delete
  2. Oh Peter, I am so glad that you have brought up uric acid. My daughter's levels have been high for several years now and I have asked so many doctors, but nothing. This last test, it is very high at 9.6 given a range of 2.5 - 7.1. She eats only moderate amounts of meat, given the MAD. A couple of years ago, before the diet, she used to eat much more meat, and organ meats at least a couple of times a week, and it was lower, though still higher than normal. Taking them out has not done anything. It seems endogenous. What does it mean, and what would be good ways to treat it?

    The other thing that worries me even more and again, no help from doctors, are her ferritin levels. Always high, though TIBC, serum ferritin, saturation etc are normal. This last test is very high: 201, in a range of 15 - 77. What could be causing this, and given the lack of answers, I am just tempted to take her to the doc for some old fashioned blood letting.

    Looking forward to your reply, many thanks.

    ReplyDelete
  3. RG, read the two papers below. It would seem a good idea to try an oral dose of uridine. There are also foods rich in uridine like:

    • Sugarcane extract
    • Tomatoes (0.5 to 1.0 g uridine per kilogram dry weight)
    • Brewer’s yeast (1.7% uridine by dry weight)
    • Beer
    • Broccoli


    Purine metabolism abnormalities in a hyperuricosuric subclass of autism.
    http://www.sciencedirect.com/science/article/pii/S0925443999001131


    Metabolic treatment of hyperuricosuric autism.
    http://www.ncbi.nlm.nih.gov/pubmed/11817520

    ReplyDelete
  4. Hi Peter,
    My son regressed into Autism and my second son was born with Neurofibromatosis Typ 1, Doctors say there is a connection, since some of the symptoms are similar, in the sense, hypotonia, speech issues, though my son with NF1 is almost Neurotypical in behaviour , learning , he has issues with clarity of speech, speaks both German and English and very intelligent, but he has hypotonia, short stature, I have in general treating him with vitamins and supplements, however for my autistic son, based on my research , I feel he could have inborn errors of metabolism, though the doctors did test him while he wa s a baby for PKU etc, there could be a chance that he was a borderline case, he has improved a lot with biomedical interventions, but I am sure, he could still get better with Bh4 supplement, I am thinking of doing a LP since he has also tested positive for FRA, another thing that bothers me is that he has been suspected for GAMT deficiency and tested thrice ..but comes negative, I am still sure, supplementing creatine may yield positive results, I have done 23andme and he is heterozygous for GAMT, I understand that the gene may not have expressed, but could there be slight possibility of creatine deficiency, I have two other mothers who treat their children with creatine though the tests were negative but children shown improvements, what would be your opinion? thanks

    ReplyDelete
    Replies
    1. Sowmya

      Did you consider Cerebral Folate Deficiency (CFD) syndrome caused by folate receptor autoantibodies (FRAs) ?

      http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3578948/

      I think your best option is to go to an expert on inborn errors like Dr Frye the author of the above paper, or the doctors in Vancouver who run this site (http://www.treatable-id.org/page89/about.html)

      Depending on where you live, this may be difficult, but you only need to do this once. In most countries such diagnosis is impossible.

      Delete
  5. Sowmya,You say your son has FRAs.I would strongly suggest you join our Facebook group.

    https://www.facebook.com/groups/363697893680469/

    Has he been treated with folinic acid?

    I don't know where you live,but if you live in the USA,I would suggest you see either Daniel Rossignol,or Richard Frye.Or,if if you live in Europe,Vincent Ramaekers in Belgium.

    Has he had any testing for mitochondrial function?

    There is a strong connection to Neurofibromatosis type 1 and autism.

    http://questioning-answers.blogspot.com/2013/11/neurofibromatosis-and-autism.html

    http://www.nfauk.org/assets/downloads/NF1_-_update_AGM_presentation.pdf

    http://pediatrics.aappublications.org/content/early/2013/10/30/peds.2013-1868d

    Has your son who was not diagnosed with Neurofibromatosis type 1 been tested for the NF1 gene?He may have an unusual variant.

    I would also suggest he have a Creatine Disorders Panel.

    http://www.mayomedicallaboratories.com/test-catalog/Clinical+and+Interpretive/88697

    ReplyDelete
    Replies
    1. Roger Thanks
      Yes, He has FRA, In Dec 2013 I did consult Dr.Rossignol and thats how I started my biomedical journey, I am in some Facebook groups for Autism, I will look into the group you posted swell, Interestingly , I did write about my pending consult with Dr.Ramaekers .. I have scheduled an appointment and I am also looking forward to consulting with Dr.Nenad Blau who specialises in PKU ,he is biochemical geneticist . As far as Mitochondrial dysfunction, I have done methylation panel, and he is on mitococktail ...The doctors have already tested my Autistic son for NF1 too since his brother has, but he is negative for NF1 and he is clear for Chromosome Micro array, no deletions and no additions. As far as creatine disorders panel, I am not sure whether there are different types of this, The doctors here in Germany tested him three times ..twice blood and once in Urine, I think Dr.Rossignol also did a blood test for checking creatine deficiency, he is negative, but makes me still wonder since his 23andme shows GAMT heterozygous. I am going to USA next month and I can discuss this with scottsmith and also Dr.Ramaekers in May. I am going 25gms of Leucovorin and 2 mg of L5mthf per day with 15mg of b12 per day, thanks for taking time to write the above, I will read the articles mentioned

      Delete
  6. Hi Peter
    thanks for the prompt response, I have indeed ones FRA test from Illad Neurosciences based on Quadros, I have found 2 doctors who were involved in some research here in Deutschland, I haven't as yet made an appointment with Dr.Fyre because without Lumbar Puncture it would be also useless, I have been thinking past three years about Lumbar Puncture since its invasive, but at the end, if I want more answers, I think it would help, for my CFD, PKU etc, I have been focussing on Methylation, supplementing Leucovorin and L5mtf with b12. my son has improved with respect to speech and language although behaviours are still an issue, I am very tempted to use NAC,I have from Pharma NAC but he has CBS mutation and as per my understanding, it is high in sulfur which is difficult for people with CBS mutation to process.I am wondering what else I should consider
    thank you

    ReplyDelete
    Replies
    1. Best to join the Facebook group suggested above by Roger and contact Vincent Ramaekers, Department of Child Neurology, Liège, Belgium. Much closer than that Dr Frye.

      Delete
    2. Just re-read your post regarding lumbar puncture.
      The test provided @ http://iliadneuro.com/lab_tests
      does not involve Lumbar Puncture. Dr Rossignol also uses this (confirmed by one his parent in a yahoo message group). I had sent my son's blood samples last week. I tried to reach out to Edward V. Quadros, Ph.D. - (one of the researchers along with Dr Frye and Dr Rossignol) and Dr Edward suggsted that I reach out to Dr Ramaekers in Liege, Belgium.


      regards,
      Deepak.

      Delete
  7. Thanks Peter, I have already contacted Dr.Ramaekers and made an appointment, I cannot go to USA more often, its very expensive

    ReplyDelete
    Replies
    1. Hi Sowmya,

      Can you pls advide on how to get an appointment with Dr Ramaekers? / his contact email address/phone.

      My son is 2 years old and is under Biomedical Intervention.
      I have also send my son's blood sample to http://iliadneuro.com/lab_tests and awaiting the results.
      This is for Folate receptor antobody test.
      Travelling to the US is not an option for me so planning to request an appointment with Dr.Ramaekers.

      Based on the results for FRAT I am likely to start folinic acid (leucovorin) - but need a prescription for that. So getting an appointment with Dr.Ramaekers might be a good starting point.

      regards,
      Deepak.

      Delete
  8. Here is a great source for metabolic pathways to find information you might need to treat your families
    http://www.kegg.jp/pathway/dpg01100

    ReplyDelete
  9. *correction it was this you can modify metabolic pathways here for different organisms to view and zoom in on certain pathways. Here is homo sapiens

    http://www.kegg.jp/kegg-bin/show_pathway?org_name=hsadd&mapno=01100&mapscale=0.35&show_description=hide&show_module_list=

    ReplyDelete

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