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Rare Enzyme Deficiency Causing Pots Symptoms


ana_22

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How did my daughter all of a sudden got POTS 2 years ago?-- she is 17 now. Is

it genetic.

speaker: Dr. Fredrick Jaeger:

It is known to run in some families occasionally. There is a rare enzyme

deficiency that can run in families that gives a POTS type syndrome.

This is from the newsletter.....does anyone know what this enzyme deficiency is? just want to be sure its been ruled out. plus ive never heard of this!

thanks

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NET transporter deficiency

http://content.nejm.org/cgi/content/full/342/8/541

Orthostatic Intolerance and Tachycardia Associated with Norepinephrine-Transporter Deficiency

John R. Shannon, M.D., Nancy L. Flattem, B.S., Jens Jordan, M.D., Giris Jacob, M.D., D.Sc., Bonnie K. Black, B.S.N., Italo Biaggioni, M.D., Randy D. Blakely, Ph.D., and David Robertson, M.D.

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Hi All,

Thanks for posting this link.

I was wondering about this myself. I appear to be lacking aminos despite eating a healthy diet and enzymes are made from aminos. Aminos are critical for so many things .. Here's an article that explains this better than I can. I only copied in a small section.

http://science.howstuffworks.com/cellular-...ology/cell2.htm

Enzymes are made from amino acids, and they are proteins. When an enzyme is formed, it is made by stringing together between 100 and 1,000 amino acids in a very specific and unique order. The chain of amino acids then folds into a unique shape. That shape allows the enzyme to carry out specific chemical reactions -- an enzyme acts as a very efficient catalyst for a specific chemical reaction. The enzyme speeds that reaction up tremendously

Also, I had a weird experience on Sunday where my adrenals were in high gear and my heart was pounding whenever I tried to stand up for more than a few minutes .. I'd eaten some Cinamon Rice Chex (gluten cross contamination + chemicals) that I think caused this but I really don't know for sure. This was the first time I've ever experienced this degree of adrenal stress / heart palps. I was wondering if this is what many of you are experiencing ?

I read online that aminos were good at calming adrenals so I drank some beef Marrow water and it helped right away but wore off quickly too. So I took some aminos, including Solgar essential aminos and that helped again. After awhile I ate some beef and was fine ...

Here's one of the articles I found on adrenal support ...

http://www.drrind.com/therapies/adrenal-su...mendation-sheet

I'm not sure how long these episodes normally last but I was over this after a few hours. Actually, that afternoon I felt great ...

Has anyone else experienced this and do you know if aminos really helped or does it just take this long for the body to recooperate ?

thanks ... Marcia

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Norepinephrine transporter deficiency. However if you read the study the mutation was found in a relative who did not exhibit symptoms of significance, suggesting as the author stated, that other factors played a part in her orthostatic intolerance.

This mutation is VERY rare - in something like 200-1400 other POTS patients tested, none have ever been found to have a similar mutation.

A more recent study found that in a majority of POTS patients tested, the norepinephrine transporter protein was reduced in peripheral veins.

There is another mutation that for some reason doctors havent jumped up and down about is a reduction in ACE 2 which results in increased angiotensin II and POTs.

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There is also Dopamine Beta-Hydroxylase Deficiency, which is extremely rare. Of course, I wouldn't know which Dr. Jaeger was referring to, but this is another possibility.

I think it is credited with being the first (or only) discretely known pathology of POTS so it comes up as a "classic" reference (but isn't prominent in care). Despite being a profound condition, where one neurotransmitter is absent and being partly substituted by another, it manages to emerge late in life:

http://www.mc.vanderbilt.edu/root/vumc.php...dc&doc=4792

http://www.ncbi.nlm.nih.gov/bookshelf/br.f...mp;part=dbh#dbh

http://ndrf.org/dopamine.htm

CORRECTION: I was blurring/confusing my memory of NET and DBH deficiencies here. NET is the most related to POTS and the illuminating or "classic" reference I was mis-remembering... and is probably the only possibility the doc was referencing for POTS. DBH is a separate autonomic disorder from POTS, despite resulting in similar symptoms... more like extreme orthostatic hypotension (with compensatory tachycardia). It's also congenital, rather than hereditary according to one article.

Edited by Erik
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Also, I had a weird experience on Sunday where my adrenals were in high gear and my heart was pounding whenever I tried to stand up for more than a few minutes .. I'd eaten some Cinamon Rice Chex (gluten cross contamination + chemicals) that I think caused this but I really don't know for sure. This was the first time I've ever experienced this degree of adrenal stress / heart palps. I was wondering if this is what many of you are experiencing ?

I have the same experience when I eat anything with cinnamon + I get a migraine. I thought it was because cinnamon dilates the blood vessels. Could you allergic to it?

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Thanks Alicia,

Sure, I could be allergic to anything at this point. My esoniphils (sp?) have been high on my labs for approximately 2 years now. I've eaten cinamon at other times and never had this reaction though but I'm still not eager to try it again ... part of my reaction was a typical gluten reaction though .. insomnia, jerking, weak arms ... it was the adrenal / heart palps that was new ...

BTW. A freind of mine told me that cinamon is high in salicylates too so it could be that too. I hope not, I'm running out of food categories to avoid .. ;)

I figure it could've been anything in this cereal that nailed me. I just wondered how many others here are doing this too ... It was a really scarey experience and helped me to appreciate what others are going through ..

How quickly do you recover from this ? And did aminos help ? I really should start a new thread but I'm on my way out the door ...

TC ... Marcia

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