This animation describes what a urea cycle disorder (UCD) is and the manifestations of the disease.
This animation describes what a urea cycle disorder (UCD) is and the manifestations of the disease.
A urea cycle disorder UCD is a rare inherited metabolic disease, which is passed into the child at birth. It can occur if the baby inherits a defect gene from the parents. A UCD can also be triggered by a spontaneaous gentic mutation. You can therefore be affected by a UCD at any time in your life.
But what is a UCD?
A UCD is a disease in the liver that prevents the excretion of waste products/toxins through the urine. As a result, waste products accumulate. There are different types of UCDs depending on which enzyme is affected. When we eat proteins, the body breaks down the proteins into amino acids. The excess amino acids are then converted into the waste product ammonia. Enzymes in the liver then convert the ammonia into urea, which can be excreted in the urine.
However, in a person with a UCD, the body is unable to excrete the waste products, and ammonia is left than the blood, which is harmful and can lead to brain damage. Typical symptoms of a UCD may be non-specific and range from fatigue to headache and difficulty concentrating. Younger children may experience vomiting and difficulty regulating body temperature.
Symptoms may be triggered by everyday events such as a virus, exam-related stress, travel, fasting, other illness, or pregnancy.
Fortunately, it is possible to manage a UCD. The best way to do this is to talk to your doctor and follow a plan that includes diet restrictions, dietary supplements and possibly medication.
It is important you follow the advice provided by your health care professional. An untreated UCD can result in memory loss, behavioral changes, coma and can even be life-threatening. Damage to the brain caused by exposure to high ammonia levels may affect everyday life including decision-making, memory problems and mood swings.
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