If you’re an OTC carrier or think you might be, this page is for YOU. It was created based on the stories of carriers at different stages of life. Many OTC carriers experience symptoms like migraines, exhaustion, mood swings, heat intolerance, or feeling sick after eating protein. What they don’t know is that those symptoms may be caused by OTC.
“Everything just clicked as to why I’d been having these symptoms since I was a child, and no one could ever find answers for them. I felt relief to know OTC was the answer.”
If you’re an OTC carrier, it’s time to know if symptoms you experience are really OTC related. Use this page to help you evaluate your symptoms, hear from other OTC carriers who have been where you are, and learn what kinds of questions to ask your doctor. Now they know—do you?
If someone in your family has been diagnosed with OTC, use this OTC Symptom Survey to see if you've been experiencing any OTC-related symptoms. Be sure to share your results with your doctor. If you have been having symptoms, your doctor can talk to you about a management plan that's right for you.
Having to constantly explain OTC to the people around you—even your doctors!—can be exhausting, so we created a resource to help. Below you’ll find two different worksheets. One is to share with people like family, friends, and coworkers, and one to share with people on your healthcare team, like your primary care physician or OB/GYN, who might not be as familiar with OTC.
Each worksheet gives a brief description of OTC and what it means to be a carrier, it also has space for you to fill in important information about the support and care you may need when it comes to making healthcare decisions that could be impacted by your OTC.
The OTC Family Tree can help you see who in your family may be at risk for OTC deficiency. Take a few minutes to fill it out, then review it with your doctor or genetic counselor to see who in your family should be tested for the OTC gene.
Some OTC carriers experience symptoms for some time before they even know they are carriers or that it is damaging their health.
Even people with mild OTC can experience hyperammonemia (too much ammonia) at any age.
There are things you can do to help keep these symptoms under control. An OTC management plan may help!
Carriers may have less severe OTC, which means they may not experience hyperammonemic crises often or even ever. BUT this doesn’t mean carriers don’t experience high levels of ammonia!
There are also programs available to help people afford a genetic test. The UCD Genetic Testing Program provides access to genetic testing for people suspected of having OTC and their family members at no cost.
Urea cycle disorders (UCDs) are a genetic disorder. That means they are caused by a defective gene, which can be inherited from one or both parents. They 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.
A genetics test or "DNA test" allows doctors to find out if you have any defective genes that may cause a urea cycle disorder (UCD). A genetic test can be ordered by a primary care doctor, a metabolic geneticist, or a genetic counselor.