Symptoms of UCDs can be subtle and similar to many other conditions, which can lead to misdiagnosis. Symptoms may appear at any time and may be different from person to person.
Normal things in life, like being sick, stressed out, and eating foods that are high in protein, can cause ammonia to rise to toxic levels. This can trigger a hyperammonemic crisis. A hyperammonemic crisis is when there are extremely high levels of ammonia in the blood, and it requires immediate medical attention. Even mild symptoms can mean that ammonia levels in the body have risen to a high level, which can lead to serious health problems if not treated.
Symptoms like these should not be ignored, because they may be signs of high levels of ammonia which can lead to coma or permanent brain damage.
Make the connection between UCD symptoms and the potential long-term effects on the body.
Most people think a urea cycle disorder, or UCD, is a condition that only affects the liver. But it might surprise you to learn that the most serious damage caused by a UCD actually happens in the brain. Symptoms like forgetfulness, a short attention span, moodiness, and trouble with problem solving, all result from a UCD. It all starts with ammonia. Ammonia can travel through your blood to your brain, and it is harmful to your brain cells. High levels of ammonia may cause your brain cells to swell and malfunction which may damage them to the point that they no longer work at all. It’s important to remember that even though you can’t see this happening, higher than normal ammonia levels are dangerous to your brain. One instance of elevated ammonia may not cause a permanent or obvious problem. But the more often your ammonia levels are elevated over time, the more likely it is that the damage to your brain will be serious and permanent. Even if you’re not having a hyperammonemic crisis, high ammonia levels that are high enough to cause symptoms can still lead to permanent damage. So what can happen when brain cells are damaged? You may not notice the effects right away or even realize that they’re related to your UCD, but the problems that result from the damaged brain cells can affect your everyday life at home, at work, or at school. You may have issues like remembering things, difficulty making decisions, mood swings, and problems with thinking. Damaged brain cells may also cause you to function at a lower level than a typical person your age. Keeping ammonia levels low can help prevent damage to your brain over time. The best way to do this is by sticking to the management plan recommended by your doctor, which may include a low-protein diet, dietary supplements, and an ammonia-removing medicine (also called a nitrogen-scavenger medicine). Not following your low-protein diet or not taking your dietary supplements and medicine, even when you’re feeling healthy, can cause ammonia levels to rise. It’s very important to stick to the management plan your doctor has created for you and to take all the supplements and medicines as prescribed. So, remember, the major effects of high ammonia are actually on your brain which can cause serious symptoms. Tell your doctor about any and all symptoms you experience, even if you don’t think they are related to your UCD. And make sure to talk to him or her about your management plan and whether you should make any changes to help keep your ammonia levels under control.
Ornithine transcarbamylase deficiency or OTC deficiency is the most common type of UCD. People with OTC may experience headaches, mental fogginess, or avoid protein, and could be signs of something serious.
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Learn more about the 3 common signs of a hyperammonemic crisis.
One of the most important concerns that we have with patients with a urea cycle disorder is that their chronic exposure to ammonia or having high levels of ammonia, and that ammonia builds up and affects your brain. A hyperammonemic crisis is when your body starts breaking down protein and building up ammonia. That build up can lead to toxic levels of ammonia, leading to a crisis that could potentially end up in coma or brain damage. The 3 most common signs of hyperammonemia in a patient with a urea cycle disorder include a headache, vomiting, and increased sleepiness. If you think you’re experiencing a hyperammonemic crisis you should call your emergency phone number for your metabolic team immediately and head to the emergency room.
How Well Are You Managing Your Ammonia Levels?