Urea Cycle Disorders (UCDs)

Urea cycle disorders include a group of diseases, each having a specific liver enzyme deficiency. These disorders vary in severity and may be first detected at various ages, from newborn infants to adults. They lead to increased levels of ammonia in the blood, which may cause disturbed brain function and severe brain damage. Typical signs of the disease are decreased mental awareness, vomiting, combativeness, slurred speech, unstable gait and unconsciousness. The diagnosis of urea cycle disorders requires special laboratory tests. Because they are inherited, other family members may be affected.