My BFS Cause Identified

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My BFS Cause Identified

Postby misterjuanperalta on May 30th, 2017, 3:07 pm

I have been diagnosed with a urea cycle disorder featuring episodes of hyperammonemia.

Laboratory Tests @ Quest Diagnostics

• Amino Acid Analysis
• Organic Acids, Full Panel, Quantitative, Urine
• Ammonia, Plasma

"Hyperammonemia is characteristic of all urea cycle disorders, but orotic acid is elevated in only some, including ornithine transcarbamylase deficiency, where findings also reveal increased ornithine levels, decreased arginine and citrulline levels. Neurologic findings include seizures, tremor, ataxia and cognitive deficits. Reduction of protein and exogenous orotic acid will be beneficial."

Source(s): http://www.mayomedicallaboratories.com/ ... etive/8905, http://emedicine.medscape.com/article/950672-overview, https://www.ncbi.nlm.nih.gov/books/NBK1 ... objectonly, https://www.caasn.com/b13-orotic-acid.html, http://www.ggc.org/diagnostic/tests-cos ... ncing.html

Unless it can be proven otherwise, my BFS mystery is solved.
misterjuanperalta
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Re: My BFS Cause Identified

Postby Dennis_dw on October 7th, 2017, 8:25 am

I see you joined 2014 and have 520 posts, so I assume you did many, many tests to get to this diagnosis. Did they never see this in your blood/urine tests?

Even after reading about urea cycle disorders, it's still very difficult for me to understand what it is exactly (non-native speaker). I hope there's a better treatment for you now that you know what you have
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Re: My BFS Cause Identified

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