One in every 25,000 children is affected by a urea cycle disorder. Many physician believe there are many more cases, but they are not properly diagnosed. The effects of a urea cycle disorder usually do not appear until the first 24 hours of life. At that point, the infant becomes lethargic and begins vomiting. Soon after, seizures, decreased muscle tone, respiratory distress and coma may occur.
Death generally occurs if no immediate intervention is take to decrease the ammonia level.
Treatment, individualized for each child, generally consists of a low-protein diet, and the use of medications which provide ammonia removal.