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Hello,
I am coming into this discussion late. My son has autism and does some of the treatments that people who have ME do. That is why I originally joined this forum. My son is 8 years old. I will call him "C".
We have seen an "autism neurologist" for a few years to investigate something called Cerebral Folate Deficiency Syndrome as well as mitochondrial dysfunction. C was just diagnosed with mito dysfunction. The MD whom we have gone to for this is Richard Frye MD PhD. He is currently at Arkansas Children's Hopsital. I know of one 53 year old man who is now seeing Dr. Frye for mito, but he had to petition ACH and probably Dr. Frye in order to become a patient at a children's hospital. The man had a diagnosis of autism as a child.
For C, we have had 3 fasting organic acids tests done. The first one was done by Sumit Parikh MD at Cleveland Clinic. Dr. Parikh works with Bruce Cohen MD. There were some signs of mito dysfunction for C as early as June of 2010. He has elevated glycine and alanine. We did another fasting blood and urine test for mito in August of 2013 at ACH for mito. Those results came back showing mito dysfunction. With Dr. Frye and other autism MDs, the next step is buccal swab testing. You can do the buccal swab test without an MD prescription. Here is the info on where to get the materials for the buccal swab test: Michael Goldenthal PhD, email michael.goldenthal@drexelmed.edu. When/if you email him, he will not email you back, but he will send the test materials out. (You need to provide some of the packaging yourself.). The test is $200 out of pocket....not cheap. The buccal swab test will show you more specific information about what category of mito dysfunction you may have.
Usually, the fasting blood and urine test is done before the buccal swab testing. I have been told that the fresh muscle biopsy test in Atlanta is a "last resort" type of test, when you are not getting clear answers for the less invasive tests.
There is genetic mito dysfunction and acquired mito dysfunction. My husband, C, and myself are doing genetic testing for mito. C is have bloodwork done, while my husband and I are doing 23andme. My husband's brother has CFS/ME and had Grave's disease (times 20+ years), so I am predicting that something is going on genetically.
C also has Cerebral Folate Deficiency Syndrome. This is officially diagnosed via spinal tap. When methyl folate levels are very low in the cerebrospinal fluid, it can be a sigh of mito dysfunction (per Dr. Frye). My son's methyl folate levels were 29, which is considered low.
For C, the mito dysfunction may be effecting many things. After starting a mito cocktail (supplement), he has been able to walk MUCH farther than ever in the past. I believe it is also helping him with GI issues and cognition. Neurobiologix makes an OTC supplement, which I am taking. (My husband and I are looking into our own health issues now.....I have some type of fatigue issue going on.). The Neurobiologix supplement helped C, but it has curcumin in it, and he does not like the taste. His autism MD, Dr. Anju Usman MD, has made up a mito cocktail for him without the curcumin.
I hope this post helps someone. I came on here today looking for support for a friend whose daughter has B6 (P-5-P) deficiency and a lot of medical issues related to that. I will search the forums to see if anyone has posted about that issue.
Amy
Edited for typos
I am coming into this discussion late. My son has autism and does some of the treatments that people who have ME do. That is why I originally joined this forum. My son is 8 years old. I will call him "C".
We have seen an "autism neurologist" for a few years to investigate something called Cerebral Folate Deficiency Syndrome as well as mitochondrial dysfunction. C was just diagnosed with mito dysfunction. The MD whom we have gone to for this is Richard Frye MD PhD. He is currently at Arkansas Children's Hopsital. I know of one 53 year old man who is now seeing Dr. Frye for mito, but he had to petition ACH and probably Dr. Frye in order to become a patient at a children's hospital. The man had a diagnosis of autism as a child.
For C, we have had 3 fasting organic acids tests done. The first one was done by Sumit Parikh MD at Cleveland Clinic. Dr. Parikh works with Bruce Cohen MD. There were some signs of mito dysfunction for C as early as June of 2010. He has elevated glycine and alanine. We did another fasting blood and urine test for mito in August of 2013 at ACH for mito. Those results came back showing mito dysfunction. With Dr. Frye and other autism MDs, the next step is buccal swab testing. You can do the buccal swab test without an MD prescription. Here is the info on where to get the materials for the buccal swab test: Michael Goldenthal PhD, email michael.goldenthal@drexelmed.edu. When/if you email him, he will not email you back, but he will send the test materials out. (You need to provide some of the packaging yourself.). The test is $200 out of pocket....not cheap. The buccal swab test will show you more specific information about what category of mito dysfunction you may have.
Usually, the fasting blood and urine test is done before the buccal swab testing. I have been told that the fresh muscle biopsy test in Atlanta is a "last resort" type of test, when you are not getting clear answers for the less invasive tests.
There is genetic mito dysfunction and acquired mito dysfunction. My husband, C, and myself are doing genetic testing for mito. C is have bloodwork done, while my husband and I are doing 23andme. My husband's brother has CFS/ME and had Grave's disease (times 20+ years), so I am predicting that something is going on genetically.
C also has Cerebral Folate Deficiency Syndrome. This is officially diagnosed via spinal tap. When methyl folate levels are very low in the cerebrospinal fluid, it can be a sigh of mito dysfunction (per Dr. Frye). My son's methyl folate levels were 29, which is considered low.
For C, the mito dysfunction may be effecting many things. After starting a mito cocktail (supplement), he has been able to walk MUCH farther than ever in the past. I believe it is also helping him with GI issues and cognition. Neurobiologix makes an OTC supplement, which I am taking. (My husband and I are looking into our own health issues now.....I have some type of fatigue issue going on.). The Neurobiologix supplement helped C, but it has curcumin in it, and he does not like the taste. His autism MD, Dr. Anju Usman MD, has made up a mito cocktail for him without the curcumin.
I hope this post helps someone. I came on here today looking for support for a friend whose daughter has B6 (P-5-P) deficiency and a lot of medical issues related to that. I will search the forums to see if anyone has posted about that issue.
Amy
Edited for typos