Plan now to join the NUCDF’s awareness campaign in October to improve the diagnosis of urea cycle disorders (UCDs). This annual campaign highlights the critical importance of promptly checking blood ammonia levels and using proper testing techniques.
A blood ammonia test is essential to uncover elevated ammonia levels (hyperammonemia), the classic sign of a urea cycle disorder. Resources on recognizing and testing for hyperammonemia are featured on the campaign website at checkammonia.com.
Quickly diagnosing UCDs is critical. Toxic ammonia levels can rise rapidly in affected individuals and, if left untreated, can cause coma, brain damage, and death.
Newborns with severe, neonatal onset UCDs typically become catastrophically ill within 24-48 hours after birth. Children with late onset disorders can begin to show symptoms later. Adults with undiagnosed UCDs may present at emergency rooms with symptoms that can be mistaken for alcohol or drug intoxication—and may die without prompt diagnosis and treatment.
The campaign's primary message remains simple: A blood ammonia test, performed promptly and properly, can save lives. Downloadable campaign resources focus on (1) recognizing the signs of UCDs, (2) promptly ordering a test, and (3) following proper test procedures.
We need you: How you can take part
Check Ammonia Month only works because our patients, providers, and families help carry the message. This year, we're specifically asking our community to:
- Share the campaign materials. Share flyers, social graphics, and flyers on your own social media, in patient groups, with colleagues, or with your child's school or care team. Download the materials.
- Deliver materials to your providers. Bring printed copies to your pediatrician, family doctor, or local emergency room. Many UCD diagnoses are missed simply because a provider hasn't seen materials like these before. You can also request hard copies.
- Add your experience to our registry. If you haven't already, consider joining the NUCDF International Patient Registry. Registry data directly shape the research and awareness materials we produce. Click here to join.
- Follow us, share campaign posts, and use the #CheckAmmonia hashtag. Find NUCDF on Facebook, LinkedIn, and Instagram.
About urea cycle disorders
A urea cycle disorder is caused by a genetic mutation—a change in a person's genes—that leads to a deficiency of one of the enzymes needed to metabolize protein. These missing or reduced enzymes make the process less efficient, allowing ammonia to build up in the bloodstream. High ammonia levels are toxic to the brain, causing a range of physical, neurological, and behavioral symptoms.
UCDs can strike at any age. Those with more severe UCDs (greater enzyme deficiency) typically become symptomatic very shortly after birth. Those with less severe UCDs (less enzyme deficiency) can develop symptoms at any time later in life.
Signs of UCDs
The Check Ammonia campaign website highlights the early signs of hyperammonemia in newborns and in older children and adults that should prompt a blood ammonia test. Key warning signs include:
Newborns from 1 to 28 days old: Poor feeding or vomiting, hypotonia (poor muscle tone or floppiness), lethargy (difficult to wake up), respiratory distress, seizures, or coma.
Older infants and children: Inconsolable crying, agitation, or hyperactive behavior sometimes accompanied by screaming, self-injurious behavior, and refusal to eat meat or other high-protein foods. Later symptoms may include frequent episodes of vomiting, especially following high-protein meals, lethargy, and delirium. Older children may be referred to child psychologists because of their behavior, developmental delays, and eating problems.
Adults with high blood ammonia levels: Disorientation, confusion, slurred speech, unusual and extreme combativeness or agitation, stroke-like symptoms, lethargy, and delirium. Many may be seen by neurologists or psychiatrists because of psychiatric symptoms, including schizophrenia and bipolar disorder.
Routine ammonia checks aren't necessary for everyone, but the test is crucial for those experiencing symptoms that could indicate high ammonia. Proper test procedures are described here.
Once identified, high ammonia levels can be managed and treated in several ways. These treatments may include medications, dietary changes including protein restriction, managing underlying conditions, or hospitalization in more severe cases, especially if neurological symptoms are present.
Learn more, read patient stories, and access campaign materials at checkammonia.com. Questions? Reach out to info@nucdf.org.
