We know Urea Cycle Disorders. We live to conquer them.
GET HELP AND SUPPORT:Do you need support? Whether you have just received a diagnosis of urea cycle disorder, or you're a UCD veteran, we can help with information on diagnosis, learning how to manage a urea cycle disorder, living with UCD, and everything in between. Tell us your story. We're here to help with credible information and individual support.
GET INVOLVED:Join the fight to conquer UCD. Learn more about supporting or participating in UCD research.
STAY INFORMED: Keep up with the latest information on urea cycle disorder treatments, management and research.
News and Announcements
July 30, 2021 UCD INTERNATIONAL SCIENTIFIC SYMPOSIUM for clinicians and researchers:NUCDF and the Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium (UCDC) are co-hosting the 5th International Scientific Symposium on Urea Cycle Disorders, "Mapping Progress: Current Concepts and New Insights in Urea Cycle Disorders," on September 22-24, 2021. Continuing the tradition of the first such symposium held in 1997 in Vienna, 2003 in Sydney, 2009 in La Jolla, and 2013 in Barcelona, the proceedings will be published to serve as a permanent record of the state of the art of scientific understanding of UCD and benchmark for clinicians and researchers. On behalf of the Organizing Committee, Satellite Co-Chairs, Dr. Andrea Gropman (UCDC Principal Investigator) and Cynthia Le Mons (NUCDF Executive Director/UCDC Co-Principal Investigator) encourage young clinicians and researchers to submit research abstracts and posters here by Aug 20, 2021 (Deadline expired).
March 17, 2021 WEBCAST COVID-19 VACCINES, PART 2:UCD experts, Brendan Lee M.D. Ph.D., Sandesh Nagamani M.D., and Andrea Gropman M.D., provide general guidance about COVID-19 vaccines in individuals with UCD and answer questions submitted by our UCD community. Presented in partnership by NUCDF and the NIH Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium (UCDC).
March 4, 2021 WEBCAST COVID-19 VACCINES, PART 1: Dr. Maria Elena Bottazzi, internationally-recognized vaccinologist, provides information and answers questions from our UCD community about the development and types of current vaccines, safety and effectiveness. Presented in partnership by NUCDF and the NIH Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium (UCDC).
February 28, 2021 NUCDF RARE DISEASE DAY VIDEO: Commemorating Rare Disease Day around the world, and raising awareness of the challenges faced by UCD patients and families.
May 25, 2020 CLINICAL RESEARCH SURVEY, IMPACT OF COVID-19 ON RARE DISEASE PATIENTS AND CAREGIVERS: This study is being conducted by the National Institutes of Health (NIH) Rare Diseases Clinical Research Network to help researchers understand the impact of COVID-19 on the rare disease community. Is access to care changing? Can you get needed medical and nutritional supplies? Are stress and anxiety impacting you and your family? Complete the survey or learn more at https://RareDiseasesNetwork.org/COVIDsurvey.
May 20, 2020 COVID-19 UPDATE Multisystem Inflammatory Syndrome in Children (MIS-C) Info Sheet: MIS-C is a rare and potentially fatal inflammatory disease in children that is linked to COVID-19, even in those who have been asymptomatic for COVID-19. Treatment may include steroids, which should be used with extreme caution in UCD. Steroids cause excessive ammonia production that could lead to hyperammonemia. Learn about the signs and symptoms of MIS-C and, if your UCD child shows signs, alert medical personnel that steroids may be contraindicated.
April 14, 2020 COVID-19 (Coronavirus) RECORDED WEBCAST "LIVING WITH UCD IN A COVID-19 WORLD": Presented in partnership by NUCDF and the NIH Rare Diseases Clinical Research Network Urea Cycle Disorders Consortium (UCDC). UCD patients and families submitted questions for the expert panel with Andrea Gropman, MD, and Sandesh Nagamani, MD, Principal Investigators of the UCDC, an international network of 16 clinical "centers of excellence" for UCD treatment and research.
April 9, 2020 COVID-19 (Coronavirus) SUBMIT QUESTIONS FOR "LIVING WITH UCD IN A COVID-19 WORLD": Those of us dealing with UCD have lots questions about COVID-19 (coronavirus)! Let's ask them! As promised, NUCDF will be hosting a recorded webcast in partnership with the Urea Cycle Disorders Consortium, "Living with UCD in a COVID-19 World," to answer questions from UCD patients and families and provide some guidance during this challenging time. Question submission closed Monday, April 13. Be safe out there!
March 15, 2020 COVID-19 (Coronavirus) RESOURCES AND RECOMMENDATIONS FOR UCD PATIENTS AND FAMILIES: It is an especially stressful time for many patients and families affected by urea cycle disorders who already deal with medical issues in their daily lives. In collaboration with our UCD medical experts in the Urea Cycle Disorders Research Consortium, the National Urea Cycle Disorders Foundation has developed recommendations for UCD patients and families for taking precautions to protect their health during the evolving coronavirus pandemic.
January 31, 2020 UCD MOM PUBLISHES CHLDREN'S STORY: Based on her son's experiences with UCD, the illustrated book weaves a magical story of whimsical adventures in hopes of raising awareness of rare diseases and learning to live with a rare condition.
October 24, 2019 UREA CYCLE DISORDERS RESEARCH CONSORTIUM RECEIVES NEW 5-YEAR FUNDING:National Institutes of Health Rare Diseases Clinical Research Network has awarded the Urea Cycle Disorders Consortium (UCDC) $5 million funding to continue research for urea cycle disorders. Founded in 2003 by UCD clinical research experts and the National Urea Cycle Disorders Foundation (NUCDF), the UCDC was established and received its first 5-year funding as one of ten consortia to study rare diseases by the Office of Rare Disease Research.
Now co-led by principal investigators Dr. Andrea Gropman at Children's National Medical Center, Dr. Sandesh Nagamani at Baylor, and Cynthia Le Mons at NUCDF, the17-site international UCD Consortium of physicians, scientists, neuropsychologists, nurses, genetic counselors and researchers will continue to work in collaboration with UCD patients and families to conduct studies to improve the understanding of UCDs, long-term health outcomes, and accelerate the development of new treatments.
"It's gratifying that patients diagnosed with urea cycle disorder now are surviving, growing up, becoming young adults and starting families themselves. Twenty to 30 years ago, this never would have seemed conceivable," Dr. Gropman says. "We have collected many years of longitudinal clinical data, but with this new funding we can address critical questions about UCD that are meaningful on a day-to-day basis for UCD patients and families and improve long-term health and quality of life."
August 7, 2019 MOM ADVOCATES FOR UCD RESEARCH AND EDUCATION IN MEMORY OF HER SON: After being diagnosed with acute lymphoblastic leukemia, a deadly combination of chemotherapy and undiagnosed urea cycle disorder (OTC) took the life of 14-year old Samson Boylen. His mother is dedicated to raising awareness and educating healthcare professionals to improve symptom recognition and screening.
March 2, 2019 LINCOLN FIFTH-GRADER BATTLING RARE DISORDER:Mya shares her story to raise awareness about OTC deficiency. Thank you to the Blomenberg Family for all their support of NUCDF since Mya's diagnosis, and for participating in UCD research studies to move the ball forward!
February 28, 2019 NUCDF RARE DISEASE DAY VIDEO: Commemorating Rare Disease Day around the world, focusing on raising awareness of the challenges faced by UCD patients and families.
February 28, 2019 Meet Kristy:Affected by UCD, Kristy "shows her Rare," and shares her story for Rare Disease Day 2019. Thank you, Kristy!
March 4, 2019 UCD? MEET YOUR NEW BEST FRIEND - NUCDF ANNOUNCES MYUCD DIET®:Medical professionals stopping by our exhibit at the Society for Inborn Errors of Metabolism (SIMD) meeting got a sneak peak at our new UCD diet management mobile app debuting this summer, designed specifically for UCD patients and families. Three years in development with input from UCD experts, families and patients, the project also includes a portal for dietitians to help manage and monitor diet changes, and a research portal to facilitate new studies on nutritional issues in UCD. Meet MyUCD Diet® at the NUCDF Family Conference! Sign up for MyUCD Diet® alerts and launch date.
Do you need help or information on understanding or managing UCD? We're here to help you! Email us at
Raise Awareness of Urea Cycle Disorders - Help Save Lives
ZOEY'S STORY - RAISING AWARENESS ABOUT UREA CYCLE DISORDERS AND THE NEED FOR BLOOD AMMONIA TESTING IN THE EMERGENCY DEPARTMENT: Swift identification of elevated ammonia levels in the ER is needed to save lives. Zoey was a beautiful, spirited 19-year-old college student who lost her life to undiagnosed OTC deficiency. In Zoey's memory, her family has partnered with NUCDF to help raise awareness and educate medical professionals on the need to obtain blood ammonia levels. "...Every medical student Every intern Every physician Every physician assistant Every nurse Every healthcare provider Every resident assistant Every coach Every one should see this video," says Lorraine Potocki, MD, FACMG, Professor, Department of Molecular and Human Genetics, Baylor College of Medicine.
Support the Fight to Conquer Urea Cycle Disorders
"IN TRIBUTE TO HER SON, CROY, OTC deficiency MOM DEBI WEST INSPIRES HER ART STUDENTS TO SUPPORT OUR CAUSE"
Help Move Research Forward - Participate in a Research Study
DISCOVER A HERO - MITCHELL'S STORY
Mitchell and his mom share their story from diagnosis with a urea cycle disorder to participation in a clinical trial, and the importance of participating in clinical trials to advance treatments.
NUCDF President Tresa Warner (family with OTC deficiency) talks about her family's participation in the Longitudinal Study of Urea Cycle Disorders, and thanks the National Institutes of Health for its support of the Urea Cycle Disorders Consortium
We can make a difference and help end the devastating effects of urea cycle disorders.
Please support NUCDF and participate in UCD research!
It's been a busy summer! Connecting families, educating providers and first responders, research meetings, new treatments in the pipeline, new studies, providing life-saving information and support to newly diagnosed families and adults, and to our UCD veterans.
Our panel of UCD experts will provide general guidance about COVID-19 vaccines in UCD patients, and answer questions submitted by UCD patients and families.
Comparative Effectiveness Study - Liver Transplant vs. Standard Treatment:Through the participation of UCD families who have had liver transplant or are continuing with standard UCD treatment, researchers seek to understand differences in risk, survival, neurocognitive oucome, and short and long-term quality of life.
UCD International Patient-Reported Outcome Study:Report your own unique experiences as a parent or individual affected by UCD. Help increase the understanding of UCD, how many people have the disorder, and how diagnosis, treatment and outcomes can be improved. You can help identify under-recognized issues and areas that need more research. Details
Neuroimaging Studies:
1) Studies using MRI techniques are being conducted to investigate the effects of UCD on brain function. Details HERE. For more information or how to participate contact NUCDF.
2)Study of past MRIs: If your child (or an affected adult) has had an MRI or EEG in the past, sign a consent to release the data to Dr. Andrea Gropman at Children's National Medical Center for reinterpretation by new software in a special study of effects of UCD on brain function. For more information contact NUCDF or Study CoordinatorDetails HERE
