Behind the Mystery: Urea Cycle Disorders

A urea cycle disorder is when ammonia builds up to toxic levels in the blood and occurs when one of the enzymes in the liver does not work correctly. There are different subtypes of urea cycle disorders, and the most common type is Ornithine Transcarbamylase Deficiency (OTC).

High ammonia levels can cause excessive tiredness, decreased muscle tone, nausea, vomiting, and irritability. For infants with a severe form of OTC deficiency, excess ammonia can lead to coma, permanent brain damage, and even death.

With the UCD Genetic Testing Program, sponsored by Horizon Therapeutics and performed by Invitae, patients and their families can be tested for a urea cycle disorder at no cost to the patient.

We’re joined by Dr. Britt Johnson from Invitae to learn more, as well as Robyn and Michael Deleon whose child passed away from OTC at 7 months old. Despite the tragedy, they were determined to help other families feel less alone by starting Connecting Families UCD Foundation.