Urea Cycle Disorder

Urea Cycle Disorder is a genetic defect. Babies born with this defect, liver fails to produce, all the six enzymes, which metabolizes protein. One of the most common types of Urea cycle disorder occurs, when one of these enzymes is deficient called Ornithine Transcarbamylase (OTC). This enzyme's ability is to combine a molecule named ornithine with molecule named carbamoyl phosphate to make cirtulline (The first step in the urea cycle). If the enzyme is missing or not working properly the urea cycle does not work correctly and ammonia builds up in the body. A normal urea cycle (In the liver cells) occurs when nitrogen is turned into urea by enzymes, which is flushed out of the body in the urine. However, if the urea is not working properly, the body cannot turn nitrogen into urea. Instead, it turns the nitrogen into ammonia. As a result, ammonia causes irreversible brain damage, coma and eventual death. Estimated, one in every 80, 000 births are born with Urea Cycle Disorder, in the United States. When the disorder is not diagnosed, those children will die. Treatment for UCD includes: Reduce the amount of protein a child consumes, administer medication which takes extra ammonia out of the body, and add arginnine or citrulline to help the body use protein. Final option is a liver transplant, which has proven to be most effective.

Many related symptoms associated to Urea Cycle Disorder. During infancy, first symptoms develop within 24 to 72 hours after feeding. The baby will become excessively sleepy, and may have seizures. Also, symptoms may include: vomiting, poor feeding, and enlarged liver. In older children, symptoms may include: seizures, hyperactivity, confusion, persistent vomiting, enlarged liver, and children may refuse to eat meat or products containing high protein content (milk, cheese, peanuts, etc.).