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The Children's National Research Institute

Urea Cycle Disorders (UCD)

Urea cycle disorders (UCD) are a group of genetic diseases that prevent the body from safely detoxifying ammonia. Ammonia is produced by natural turnover of proteins and nucleic acids in our bodies as well as by the breakdown of dietary proteins. When ammonia levels are elevated in the blood, it triggers swelling of the brain, which can lead to cognitive impairment, coma and death. The urea cycle genes and proteins form a metabolic pathway that begin with ammonia, and after a series of steps, produce urea, which can be safely excreted.

Children’s National is considered the world leader in the diagnosis, treatment, and research of urea cycle disorders with three renowned experts in this field. Mendel Tuchman, M.D., Mark Batshaw, M.D., and Marshall Summar, M.D., lead nation-wide research and clinical programs for these disorders. The Center for Genetic Medicine Research and the Center for Translational Research continue to collaborate on the NIH-funded Rare Diseases Clinical Research Center for the study of UCD. This Center is following more than 500 individuals with UCD in 15 sites across the U.S., Canada, and Europe in a 5-10 year longitudinal study to understand the medical and cognitive outcome of these devastating disorders. The UCD program is also collaborating with several biotechnology and pharmaceutical companies to test new treatments for these disorders.