We know Urea Cycle Disorders. We live to conquer them.
GET HELP AND SUPPORT:Do you need support, information on diagnosis, or help learning how to manage a urea cycle disorder? Tell us your story. We're here to help with credible information and support. Network with other UCD patients and families in our vibrant private online community. Email or call us at (626)578-0833 (Pacific Standard Time) GET INFORMATION:Learn more about UCD. We're here to answer your questions.
STAY INFORMED: Keep up with the latest information on treatments, management and research.
News and Announcements
Sep 24, 2014PHEBURANE RECEIVES PRIORITY REVIEWFROM HEALTH CANADA FOR TREATMENT OF UCD:Pheburane is a tasteless oral formulation of sodium phenylbutyrate. The granular form masks the unpleasant taste of the active substance (sodium phenylbutrate). If approved, Pheburane will provide Canadians living with urea cycle disorder access to a lower-cost alternative solution for the treatment of UCD. In July 2013, Lucane Pharma, developer of Pheburane, was granted a marketing authorization valid throughout the European Union, and plans to apply for FDA approval in the United States in 2015.
CITRULLINE ALERT: Although reputable suppliers of pharmaceutical grade L-citrulline have quality control procedures to ensure quality, due to the recent Medisca L-citrulline recall (see Feb 14 recall below), there are reasonable concerns about the potential for future issues with quality of supplements like L-citrulline that are not regulated by the FDA. Quality issues could result in side effects, including but not limited to low citrulline levels, metabolic instability, hyperammonemia or other symptoms. Please notify your metabolic physician and pharmacy if you suspect any issues. Adverse events should be reported to the FDA MedWatch HERE.
Feb 14, 2014 URGENT DRUG RECALL - CITRULLINE:L-citrulline manfactured by Medisca, a supplier to pharmacies, has been recalled. Lot#s
95482/A, 95482/B, 95482/C, 95482/D &96453/A, 96453/B, 96453/C, 96453/D contain ZERO citrulline. This could result in severe side effects including metabolic instability, hyperammonemia or other symptoms. The FDA has issued a warning HERE. Manufacturer recall information is HERE. If you have other lot numbers of citrulline from Medisca, please email us at firstname.lastname@example.org for further details, or call the FDA Drug Emergency Coordinating Center (FDA Center for Drug Evaluation and Research) at (301)796-9900. Adverse events should be reported on FDA MedWatch HERE. Please notify your pharmacy and your metabolic physician immediately.
NUCDF 2014 FELLOWSHIP GRANT AWARDED TO LINDSAY BURRAGE, MD, PhD
The purpose of the NUCDF's Fellowship Grant is to improve the quality of care for urea cycle disorder-affected individuals by attracting promising new clinicians and researchers with interest in biochemical genetics to the field of urea cycle disorders. The NUCDF Fellowship helps support postdoctoral fellows specialize and focus on research, clinical treatment and coordination of multidisciplinary care of UCDs, while advancing the understanding and treatment of our disorders.
Our 2014 Fellowship has been awarded to Dr. Lindsay Burrage of Baylor College of Medicine. Dr. Burrage will be working under the direction of preeminent UCD scientist and clinician, Dr. Brendan Lee. Dr. Burrage is an outstanding candidate who will be conducting research studies to investigate whether a form of the arginase enzyme could be used to reduce blood arginine levels in an animal model of Arginemia. If her animal studies prove supportive, a clinical trial for enzyme replacement for arginase deficiency may be developed. Previous NUCDF Fellowship awardees include Oleg Shchelockov, MD (2009), Ayelet Arez, MD PhD (2008) and Sandesh Nagamani MD(2011), resulting in transformational research on the role of nitric oxide in ASA and an upcoming clinical trial for a new treatment for ASA. For more about the NUCDF Fellowship awaredees and their commitment to UCD research and our UCD community click NUCDF Fellowship
UCD Dad takes on a dare to raise money for NUCDF
Update! Yair exceeds his fundraising goal. Thank you, Yair! Watch the video of his dare Here(click on Dare Video)
Feb 1, 2013 FDA APPROVES RAVICTI FOR TREATMENT OF UCD (ages 2 years and over): Many urea cycle disorder patients have experienced major difficulties with tolerance, compliance or side effects of Buphenyl® (sodium phenylbutyrate). A new drug, Ravicti, manufactured by Hyperion Therapeutics, is now FDA approved for use in urea cycle patients 2 years old and over. Ravicti is related to Buphenyl® in chemical structure, but is a nearly tasteless, odorless liquid formulation which is intended to work similarly to Buphenyl in removing ammonia, but without the pill burden or need to mask taste. Three teaspoons of HPN-100 equals approximately 40 tablets of sodium phenylbutyrate. Clinical trials showed improved patient compliance and control of ammonia, including stabilization of fluctuations throughout the day and overnight. Both children and adults in the trial demonstrated improved cognitive function on Ravicti.1 This milestone in therapeutic treatment for UCD is the result of a 10-year effort to develop the drug, involving a model collaborative partnership between Hyperion Therapeutics, NUCDF and UCD families, and our UCD medical experts working together to improve quality of life for UCD patients.
Ravicti is now available through a specialty pharmacy distribution center. Ravicti is not available at retail pharmacies.
For more information contact NUCDF at
or (626)578-0833.Disclaimer: Information supplied by NUCDF should not be construed as endorsement of any product.
1. Diaz GA, Krivitzky LS, Mokhtarani M, et al.Ammonia control and neurocognitive outcome among urea cycle disorder patients treated with glycerol phenylbutyrate. Hepatology. 2012 Sep
NUCDF Co-Hosts International Scientific Symposium Sept 2, 2013, Barcelona, Spain: NUCDF, the Urea Cycle Disorders Consortium and the EIMD co-hosted the 2013 International UCD Symposium, "Catalyzing New Therapeutic Approaches." Over 200 scientists, clinicians and trainees from around the globe attended. The symposium was a followup to NUCDF's 2009 International Scientific Symposium in La Jolla, CA. The goal of the Barcelona meeting was to
serve as a catalyst for innovative collaborations and to provide stimulation for focused research over the coming years leading to new therapeutic approaches. Selected presentations will be published in the scientific journal, Molecular Genetics and Metabolism. To invest your support in accelerating research to develop therapeutic interventions to protect the brain from the effects of UCD, support NUCDF's Brain Project DONATE.
USA TODAY STORY: Weight loss surgery (gastric bypass) triggers undiagnosed fatal urea cycle disorder in Tennessee wife and teacher. Story. More information about bariatric surgery and the risk for urea cycle disorder Here.
UK TELEGRAPH STORY: Dukan high-protein diet triggers undiagnosed OTC, leading to coma and near death for UK man.
ABC NEWS STORY: Featuring Dr. Lee's ASA Research (see update below) and NUCDF Family that participated in the study. Clinical trials being planned. Story Stay updated by signing up for the NUCDF E-newsletter.
UPDATE: NUCDF FELLOWSHIP RESEARCH TEAM LED BY BRENDAN LEE, MD, PhD LEADS TO TRANSFORMATIONAL SCIENTIFIC DISCOVERY
NUCDF is proud to announce that the work of Dr. Lee and three NUCDF Fellows has resulted in a major discovery in ASA deficiency that transforms human science. The research has been published in Nature Medicine, a preeminent scientific journal, and challenges long-held theories about the role of nitric oxide in the human body as a regulator of cardiovascular health. The discovery is the result of research spanning several years conducted by three consecutive NUCDF Fellowship awardees, Ayelet Erez, MD, PhD, Oleg Shchelochkov, MD, and Sandesh Nagamani, MD. Dr. Stephen Cederbaum says of Dr. Lee's work, "He has transformed treatment of this rare condition and illustrates what one creative mind in the hands of an excellent and persistent scientist can do." NUCDF and our families are delighted beyond words that our investment in these three promising young scientists and Dr. Lee's work has resulted in this life-changing discovery.
"These findings open a door into ways to explore the effect of nitric oxide on a host of disorders. We hope it transforms the field,” said Dr. Lee in a recent press release. A renowned UCD expert, beloved champion of UCD families, and member of NUCDF's Medical Advisory board for over a decade, Dr. Lee has received the prestigious NIH Director's Award for Transformative Research.
UPDATE ON ARGININE THERAPY FOR ARGININOSUCCINIC ACIDURIA AND ITS EFFECTS ON LIVER DYSFUNCTION:
Urea Cycle Disorder Consortium research conducted by Dr, Brendan Lee at Baylor suggests low-dose arginine combined with sodium phenylbutyrate may decrease liver dysfunction in patients with ASA. Details
HELP MOVE RESEARCH FORWARD FOR NEWBORN SCREEN FOR OTC AND CPS1 DEFICIENCIES: A study to validate a newborn screen for OTC deficiency, CPS1, and potentially NAGS is being conducted to help identify infants affected with the disorders at birth. The pilot study has been successful in identifying cases, but more samples are needed to fully validate the screen. If your child is affected with OTC, CPS1 or NAGS, please consider releasing their newborn screening card to this research study. Most states store the NBS cards for several months; many store indefinitely and these samples can be accessed with your consent. Newborn screening is already available in most states for ASA lyase, citrullinemia and arginase deficiency, making it possible to identify and treat affected children early, resulting in significantly improved outcomes. Imagine the lives that would be saved and the neurological disabilities that could be avoided if all newborns were screened at birth for all the urea cycle disorders. Your help can make the difference!
UPDATE: NUCDF has formed a Task Force of experts in UCD to prepare the application required for submission to the Health and Human Services Secretary's Advisory Committee on Heritable Disorders in Newborns to request the addition of OTC deficiency to the HHS recommended newborn screening panel. After a ten-year struggle to find a way to screen newborns for OTC, we have light at the end of the tunnel. The above study is ongoing for OTC, CPS1 and NAGS screens, so please consider participating.
For more study details and consent forms, please contact Cindy Le Mons, NUCDF Executive Director at OTC/CPS/NAGS Screen Study
"IN TRIBUTE TO HER SON, CROY, OTC deficiency MOM DEBI WEST INSPIRES HER ART STUDENTS TO SUPPORT OUR CAUSE"
NUCDF RECEIVES 2010 ADVOCACY AWARD OF MERIT
NUCDF was chosen to receive the prestigious Child Neurology Foundation 2010 Advocacy Award of Merit. This national award
recognizes a patient support organization making outstanding achievements on behalf of patients and families with neurologic and developmental disorders. We are proud to have been recognized for our efforts and humbled to have been chosen from among over 20 outstanding organizations representing childhood epilepsy, autism and other neurodevelopmental disorders.
Our deep appreciation to Child Neurology Foundation for this award, and to all our NUCDF families and friends who so passionately and generously support our fight to conquer urea cycle disorders.
Help Move Research Forward - Participate in a Research Study
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!
Stavas family is committed to helping NUCDF raise awareness that UCDs affect both children and adults. 55-year-old firefighter Jim Stavas fell into hyperammonemic coma from undiagnosed CPS1 deficiency after a simple sinus surgery and receiving medication, prednisone.
Unaware of an underlying urea cycle defect, ornithine transcarbamylase deficiency (OTC deficiency), 20-year-old hockey player Ben Pearson died after engaging in a high-protein diet. Our NUCDF families extend our heartfelt sympathies to the Pearson Family.
For the first time, our 2013 NUCDF Annual Conference was held online - virtually! Over 200 families and medical professionals from around the world spent the day online with our UCD experts learning the latest info about UCD treatment and research. Nobody had to travel, no expenses, no stress! Details
Our event raised over $86,000 for UCD research.
Thank you to all our cyclists, "virtual riders," donors, sponsors, and volunteers for rising to the challenge and making our event a success!
UCD International Patient Registry:By reporting your own unique experiences with UCD, you can help improve the understanding of UCD. Details
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
Newborn Screen for OTC & CPS deficiencies: If your child was diagnosed with OTC or CPS1 deficiencies, release their state newborn screening card to help validate a test to screen newborns at birth for OTC and CPS deficiencies. Read more
Urea Cycle Nutrition and Immunity Study at National Institutes of Health to investigate the effects of the UCD diet on immune response. Peter McGuire, MD, Principal Investigator.