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 getting closer to finding the cause of my disorder 
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Joined: Mon Sep 30, 2013 11:16 pm
Posts: 25
Post getting closer to finding the cause of my disorder
I am not a doctor, but I think I now know more about the mechanism of my disorder and the possible cause. I think my low serine very possibly links to cGMP and is probably not a result of D-amino acid oxidase activity.

I am wondering if a defect in s-nitrosohaemoglobin/nitrosyl haemoglobin/soluble guanylate cyclase - might cause high carboxyhaemoglobin which I have and which triggers over-activation of the proline to ornithine decarboxylase to polyamine pathway which results in the abnormal activity along the other pathways mentioned below.

In more detail, I am confident that my previously unreported dominantly inherited metabolic disorder very probably results in over-expression of a presumed cortisol up-regulated pathway from proline to polyamines via proline dehydrogenase, pyrroline-5-carboxylic acid and ornithine decarboxylase (this directly explains high maltase and repeat low ornithine); that the presumed estrogen up-regulated reverse pathway of pyrroline-5-carboxylic acid to P5CR to proline is probably under-expressed; that the urea cycle is probably partially interrupted (this is predicted by ornithine being diverted to polyamines and explains borderline low urea); that a linked presumed cortisol down-regulated and estradiol/P53 up-regulated pathway from glutamate to P5CS to the urea cycle is very possibly under-expressed; that the disorder may well result in elevated Nitric Oxide and elevated cGMP (a defect in serine results in familial diarrhea and high cGMP and the disorder presents with repeat low serine and familial diarrhea, and also, the disorder presents with high carboxyhaemoglobin suggesting high cGMP and high Nitric Oxide); and that a possible cause of these abnormal mechanisms would be a defect in the action and/or synthesis of s-nitrosohaemoglobin/nitrosyl haemoglobin/soluble guanylate cyclase because this would either partially interrupt the urea cycle sending more ornithine to polyamines or because it would result in signalling increasing ornithine to polyamines (there is some evidence these all link to urea and creatinine and this would explain the disorder presenting with high urinary creatinine, and there is also circumstantial evidence suggesting that high carboxyhaemoglobin could cause overactivation of ornithine decarboxylase).

The above explains the dementia and Parkinson's I associate with my family, the disorder's hormonal triggers, the P5CS and P5CR type conditions being common in my family, and the disorder related to high NO and polyamines being present in my family, as well as the familial diarrhea.

So it seems by following my abnormal results I have reached s nitrosilation and there has been some work on this already as being a cause of dementia, though in relation to cysteine.

Most of the abnormal test results are in relation to tests I have asked for. Why can't I get a doctor to do this for me?

I would like to get the likely suspects tested s-nitrosohaemoglobin/nitrosyl haemoglobin/soluble guanylate cyclase. Does anyone know how I can get a doctor to do this as they are not routinely tested by labs?

Fri Dec 27, 2013 4:03 am

Joined: Sun Mar 30, 2014 5:11 pm
Posts: 129
Location: Hawaii
Post Re: getting closer to finding the cause of my disorder
As a Chiropractic Physician who worked alongside Medical Physicians for eleven years, I've seen that doctors do not like to order unnecessary tests. "Unecessary" meaning if these test results were abnormal, what would the medical treatment be? Moreover, insurance companies won't cover the costs of unnecessary or experimental tests. That said, if you have a good relationship with your PCP. and you are willing to pay for the tests, he/she may order them for you.

However, the results you're looking for appear to be more in the realm of research studies vs. clinical medicine. As such, you might have better luck contacting those working in clinical trials in your areas of interest ( and http://www.nihgov/healthclinical trials, as listed by LBDA) and seeing if they could connect you to a MD clinician/researcher who might be interested in ordering these tests. Good luck!

AnneA -- Forum Moderator; also daughter, caregiver, and patient advocate for Jean, who died of LBD in January, 2013, at age 91.

Fri Apr 04, 2014 2:53 pm

Joined: Mon Sep 30, 2013 11:16 pm
Posts: 25
Post Re: getting closer to finding the cause of my disorder
Many thanks. I may try that.

Though I have got a metabolic clinician taking an interest, so I am hopeful something will happen.

I am going to post an up date today.

Fri Apr 04, 2014 7:28 pm

Joined: Tue Aug 30, 2011 1:42 pm
Posts: 110
Post Re: getting closer to finding the cause of my disorder
Very interesting -
Please keep us posted. I am beginning to worry about my own genetic connection with this disease and various minor "symptoms" that are often associated with this disease - ADD, irritable bowl, poor sense of smell and balance, etc. I am very curious to learn as much about what is going on here in hopes that I can avoid my mother's fate. It is a terrifying disease and if I could understand what lifestyle and medical choices to make and not make for myself and my children, I certainly would. The more interesting information that folks like you post, the more we learn since there doesn't appear to be as much of this research being done as needs to be done. Thank you for sharing.


Thu Apr 17, 2014 1:52 am
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