UCDs are passed down through a family’s genes because people in the same immediate or extended families have some of the same genes. This may include the gene that causes ornithine transcarbamylase deficiency or OTC deficiency. If one person in your family has OTC deficiency, there could be others who are affected as well.
OTC deficiency is the most common type of UCD. It is typically passed from a mother to her child through the X chromosome. Women who pass on the OTC gene are often called “OTC carriers,” and learn this when their child is diagnosed. A mother who is an OTC “carrier” has one unaffected gene and one OTC gene. If you’re a woman with a child who has OTC deficiency, you may be a carrier of OTC deficiency as well.
Complete the OTC Family Tree and review it with your doctor or genetic counselor. This tool may help identify certain family members who could be at risk of OTC deficiency.
OTC carriers can have symptoms.
Symptoms such as migraines, vomiting, and exhaustion may be signs of high levels of ammonia in your blood. Over time, high ammonia levels can lead to brain damage.
Use this interactive tool to review other UCD symptoms. If you have any symptoms, discuss your survey results with your doctor.
If your child has been diagnosed with OTC deficiency, or if you learned that you are an OTC carrier, other people in your family might also be affected. It’s important to let your family members know and to give them as much information as you can about OTC and UCDs.
Starting this conversation with family members might not be easy or comfortable, but talking openly with your family about your experiences and answering their questions can give them a better understanding of the risk. You can explain what being an OTC carrier can mean to their health and suggest that they may want to get a genetic test as well.
If you don’t feel comfortable talking to them in person, you can take other approaches. Getting on the phone or writing a letter or email are also good options. You can compose your thoughts and include any important information. Then, you can follow up with an in-person conversation.
Use our "Talking to Your Family" guide for talking points and a sample letter to help you get started.
