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Celiac Disease And Metabolic Disease

Guest Addicted2Gluten

By Guest Addicted2Gluten
in Related Issues & Disorders

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Guest Addicted2Gluten
Guest Addicted2Gluten
Posted

I've recently been diagnosed with two extremely rare metabolic diseases, Tetrahydrobiopterin Deficiency and GTP Cyclohydrolase Deficiency. GTP cyclohydrolase is:

"an enzyme that catalyses the reaction of GTP and H2O forming formate and a precursor of tetrahydrobiopterin; a deficiency of this enzyme will result in one form of malignant hyperphenylalaninaemia."

Tetrahydrobiopterin Deficiency is:

"a rare inherited disorder that increases the amount of the amino acid phenylalanine to harmful levels in the bloodstream. While phenylketonuria (PKU) also increases phenylalanine levels and can have similar symptoms, the two disorders are caused by different genes and are treated differently. Tetrahydrobiopterin deficiency is a subtype of hyperphenylalaninemia."

Does anyone have any similar disorders or has heard about anyone else that has Celiac Disease along with a metabolic disorder of some sort?

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    • trents
      Newly Diagnosed

      By trents · Posted

      Scott Adams makes an excellent point about the possible pending scope with biopsy being the reason you were advised to keep eating gluten, @NCalvo822! You might want to get some clarification about that. What you don't want to happen is to go gluten free and then have to go back on gluten at some point in order to produce valid scoping/biopsy results.
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      By NCalvo822 · Posted

      Definitely useful info. Thank you!
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      By Scott Adams · Posted

      It's possible that your doctor wants you to do an endoscopy to confirm the diagnosis, and if that is the case that could be why they don't want you to go gluten-free before that procedure is done.  Here is more info about how to do a gluten challenge for a celiac disease blood panel, or for an endoscopy: and this recent study recommends 4-6 slices of wheat bread per day:    
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      By NCalvo822 · Posted

      Hi! Your history is interesting as I see parallels with my history. I too had migraines since childhood, but they run in my family so I didn’t think there could be any connection to the celiac. Also, the migraines have tapered off after menopause. I too have trouble walking in a straight line. And yet another similarity is I have been seeing both a dermatologist and an allergist for many years. The allergist has run many tests for my skin issues, but concluded I am not allergic to anything. I do occasionally get hives and am on daily medication to control the hives and other rashes or similar issues. At my last appt with allergist recently, I informed them of my new diagnosis of celiac disease. They said that it has nothing to do with my skin issues. They didn’t even put it in my chart. I know because I read the notes from the visit on the patient portal. However, your post has me second guessing my skin issues and possible connection to celiac disease.
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