My BFS Cause Identified

General Topics

Moderators: JohnV, Arron, garym

My BFS Cause Identified

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

I have been diagnosed with a urea cycle disorder (OTC deficiency) featuring episodes of hyperammonemia.

Laboratory Tests @ Quest Diagnostics

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

Lifecycle -

Fructose consumption leads to the accumulation of fructose-1-phosphate in cells, which may partially deplete intracellular ATP levels in susceptible individuals. Decreased cellular ATP causes disturbances in protein synthesis and reduced ammonia detoxification. Side-effects include fatigue, headaches, dizziness, behavioral changes and depressed immune function (autoimmunity, allergies).


Elevated ammonia disrupts energy production in the brain and interferes with communication between neurons (seizures). This damage manifests as sleep disturbances, mood disorders, poor cognition, anxiety, depression and movement disorders (fasciculations). High-protein diets often contribute to high postprandial ammonia levels.

Source: ... in-damage/

Ornithine Carbamoyltransferase Deficiency - Case 1: After ammonia levels were stabilized, plasma amino acids analysis revealed elevated ornithine, decreased citrulline and elevated glutamine and lysine. Urine organic acids analysis revealed highly elevated urinary orotic acid and a mild urinary uracil peak. A protein-free formula, administered continuously, was gradually changed to increase the dietary protein without a significant rise in serum postprandial ammonia levels.


• Test: ... =CAT000056

Unless it can be proven otherwise, my BFS mystery is solved.
Last edited by misterjuanperalta on March 4th, 2018, 4:41 pm, edited 5 times in total.
Posts: 519
Joined: August 21st, 2014, 7:27 am

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
User avatar
Posts: 27
Joined: April 30th, 2014, 6:28 pm
Location: Belgium (flemish)

Re: My BFS Cause Identified



Return to General Topics

Who is online

Users browsing this forum: Bing [Bot] and 55 guests