Hi
@waif
Do you have any updates on your friend with hyperammonemia? I have a similar story and for four years doctors were blaming my symptoms on chronic fatigue. I never stopped looking for an answer and a year ago a geneticist discovered that I suffer from hyperammonemia, with my highest documented level being 105 umol/L (normal range is 12-47 umol).
In May 2018, my ammonia was at the 105 umol level and I was suffering from neurological related issues and having significant issues breathing. Doctors in Canada were working at a snails pace so I applied to go to the Mayo Clinic in Rochester and was accepted one week later. During my week at Mayo, doctors worked to rule out all the obvious causes (ie. liver, cancer, portal shunt, etc). Unfortunately, they were unable to come up with a diagnosis but indicated that my EMG was consistent with myasthenia gravis (MG) and recommended that I see a neurologist for follow-up and a metabolic specialist to rule out genetic causes of hyperammonemia.
I am now being seen by genetics, metabolics and internal medicine specialists back in Canada. My neurologist is useless and isn’t convinced that I have MG despite starting me on Mestinon for MG. I still don’t have a diagnosis but testing is ongoing. It’s important that your friend be seen by a metabolic specialist to rule out Urea Cycle Disorders (UCD) and other causes of hyperammonemia. OTC Deficiency is a UCD that can cause hyperammonemia and it can be extremely tricky to diagnose. A good metabolic specialist will be aware of the latest testing methods and therefore I suggest your friend seek a referral as soon as possible.
As an aside, I was taking lactulose for seven months and Rifaximin (antibiotic) for three months. Sometimes I wonder if the lactulose caused my ammonia levels to become inflated. Let me explain, lactulose causes diarrhea, diarrhea causes low potassium, and low potassium causes ammonia to elevate. In any event, both treatments were of minimal help but I’m curious to know how long
@jeff_w took the antibiotics and if it successfully resolved all symptoms or if he needs to repeat the meds on a regular basis. The Rifaximin was successful at temporarily reducing my ammonia but as soon as I stopped taking the prescription my levels increased.
I subsequently started a very low protein diet and this has provided the best success at consistently reducing my ammonia levels down to the normal range. Unfortunately, there are many triggers (ie. eating protein, fasting, illness, hot weather, menstrual cycle, etc.) and there are days when it’s hard to eat low-protein, so I’m still figuring out how to manage on a day-to-day basis. The good news is that there have been some good improvements since I first learned about this metabolic condition in early-2018, so I can’t complain. In a nutshell, I can function again, albeit for a limited amount of time each day, but this is a step in the right direction.
As for symptoms, there were many that compounded and escalated over that four year period. The notables are: fatigue, ataxia, diplopia (I’ve since been diagnosed with convergence insufficiency aka exotropia), terrible pain on the side of my neck, rashes, pressure and pain in my head (which has since been explained as likely being caused by encephalopathy as a result of the hyperammonemia), etc.
I can’t tell you how many times I had trouble walking, talking and functioning in front of my family doctor and at the ERD, and not once did someone test my ammonia, NOT ONCE!! Instead they blamed it on Chronic Fatigue, depression and anxiety - all of which have since been ruled out by the appropriate professionals. Sadly, it took four years and a geneticist to have this routine test completed.
In the event that someone is reading this post and going through a similar experience, allow me this opportunity to state the obvious...THERE IS NO ANTIDEPRESSANT OR PAIN PILL THAT WILL HELP SOMEONE WITH HYPERAMMONEMIA, in fact it could cause a metabolic crisis. Shame on these pill pushers, I mean doctors, that prescribe these drugs to people that aren’t depressed or in pain. People, please spread the word and have your ammonia tested (both fasting and postprandial) if doctors are telling you it’s Chronic Fatigue. In my opinion, they use this label to get you to stop asking questions.
In any event, I hope your friend is getting some answers from the right specialists. Please send an update on any progress/setbacks he’s had since your initial post and I’ll send updates from my end, if anyone is interested. Take care
