Urea Cycle Disorders ECHO: The Essentials
The National Urea Cycle Disorders Foundation (NUCDF) is pleased to host a new educational series for clinicians, “Urea Cycle Disorders ECHO: The Essentials,” in partnership with Project ECHO®. The free series offers continuing medical education credit for physicians.
Four educational sessions will be offered in 2025 focusing on recognition, diagnosis, and treatment of urea cycle disorders (UCDs), a group of eight rare genetic metabolic disorders. The goal of the series is to share essential information with frontline caregivers who may not encounter these disorders often, including emergency room physicians, nurse practitioners, pediatricians, and neurologists as well as medical students. Sessions include:
Session 1: Recognition and Testing
Our first ECHO session took place on April 29, 2025 and featured Lindsay Burrage, MD, PhD of Baylor College of Medicine. More than 30 healthcare professionals joined this first session. Note that continuing medical education credits are only available to attendees of the live sessions.
Submit your case study, discussion questions, or a discussion topic for a future session
In keeping with the ECHO program model, "All teach, all learn," we invite registered program participants to share a case study, question, or discussion topic for a future session to gain the most benefit from the program. Please submit your case study or question for consideration by our Planning Committee via the ECHO program portal: Submit your materials or questions here.
Additional resources
- Information and downloadable resources on high ammonia symptoms and testing are available at our CheckAmmonia campaign website: https://checkammonia.com
- The American College of Medical Genetics offers useful resources to help inform clinical decision making here: ACT Sheets and Algorithms.
View recording and download slides
Access a recording of the session and download the presenter's slides below.
Register for Upcoming Sessions
It's not too late to register for upcoming sessions of our ECHO series! Remaining sessions are listed below. We ask that late registrants review the video and slides from prior sessions (posted above) prior to attending. Participants can register for the series here.
To foster a community of practice, session attendees will be invited to join a private discussion group for clinicians where they can share learnings and ask questions at the end of the series.
About the series The Urea Cycle Disorders ECHO program is offered by the National Urea Cycle Disorders Foundation (NUCDF), a nonprofit patient group that advocates for people affected by UCDs. Since 1988, we have been working to advance research, improve care, and raise awareness that saves lives. Our partners in this effort are the experts of the Urea Cycle Disorders Consortium (UCDC), an NIH-funded group of researchers and clinicians across 16 academic institutions in the U.S., Canada, and Europe. For more information, contact NUCDF at info@nucdf.org.
Project ECHO (Extension for Community Healthcare Outcomes) is an innovative tele-mentoring program designed to create virtual communities of learners by bringing together healthcare providers and subject matter experts using videoconference technology, brief lecture presentations, and case-based learning, fostering an “all learn, all teach” approach and democratization of knowledge. Learn more.
About the disorders UCDs are caused by genetic mutations that lead to deficiencies in enzymes or transporters crucial to removing ammonia, a toxic byproduct of protein metabolism, from the bloodstream. The disorders can present shortly after birth or later in life. The specific mutation and degree of enzymatic function determine the onset and severity of UCDs. Less severe UCDs can be managed with a complex daily regimen of medication, low-protein diet, and nutritional supplementation, but cognitive impairment can still occur. Liver transplantation can be curative for some patients but brings new challenges and complications. New genetic therapies and mRNA treatments are being developed. Learn more.
In support of improving patient care, this activity has been planned and implemented by the National Urea Cycle Disorders Foundation and Project ECHO. Project ECHO® is jointly accredited by the Accreditation Council for Continuing Medical Education (ACCME), the Accreditation Council for Pharmacy Education (ACPE), and the American Nurses Credentialing Center (ANCC), to provide continuing education for the healthcare team.
AMA Designation Statement
Project ECHO® designates this live activity for a maximum of 1.5 AMA PRA Category 1 Credits™. Physicians should claim only the credit commensurate with the extent of their participation in the activity.
