A urea cycle disorder (UCD) is a rare genetic disorder that prevents the liver from working correctly. When we eat protein, our bodies break it down into smaller pieces called amino acids. We need some amino acids to grow and stay healthy. Amino acids are changed to ammonia in the body. Too much ammonia can be toxic, so it needs to be removed by the urea cycle.
In someone with a healthy urea cycle, enzymes in the liver turn ammonia into urea, and the body removes it through the urine. In someone with a UCD, an enzyme in the liver is missing or isn’t working and ammonia can’t be turned into urea and removed from the body. This causes ammonia to build up and reach toxic levels.
This can be very dangerous because ammonia can enter the bloodstream and travel to the brain. Ammonia in the brain can cause health problems like memory loss, behavior changes, and even coma or seizures.
Having a UCD has a big effect on people’s lives. They have to eat a low-protein diet and often take dietary supplements and medicine. A UCD can also trigger a medical emergency, so it’s very important to follow a UCD management plan and know when it is time to go to the hospital for treatment.