HOW UREA CYCLE DISORDERS ARE DIAGNOSED
A doctor can discover a UCD by doing an analysis of the urine and blood. The doctor will check for abnormal metabolites (a substance produced by the body’s metabolism), and high ammonia levels. To confirm the diagnosis, in other words make sure that the symptoms really are due to a UCD, a liver biopsy can be done. This means that a tiny sample of liver tissue is analyzed for low levels of enzyme activity.
Another alternative is a genetic test. Since a UCD is a genetic disease, a genetic test can determine if something is wrong with one of the genes that helps break down proteins of the urea cycle. By identifying this gene, the doctor can decide whether you have a specific urea cycle disorder.
You may also undergo an MRI or CT scan, which can discover if there is any brain swelling that might be caused by the ammonia in the blood.