Diseases Studied

The Rare Diseases Clinical Research Network is an NIH-funded research network of 20 active consortia or research groups working to advance treatment for diseases that are rare. Use the search tools on this page to find the diseases we currently study. You can reach out to the indicated consortia or research groups for more information on those diseases and studies underway.

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All Diseases > Citrullinemia II

Citrullinemia II

Alternative Names: Citrullinemia Type II

Disease Category: Urea Cycle Disorders

An inherited, metabolic, urea cycle disorder characterized by hyperammonemia (high blood ammonia levels) due to deficiency or absence of an enzyme needed to convert nitrogen from protein metabolism (break down) into urea (a waste product). Symptoms manifest during adulthood after exposure to certain triggers (medications, infection, surgery) or after experiencing neonatal intrahepatic cholestasis (stoppage of bile flow within the liver) caused by citrin (a protein involved in membrane transport of aspartate and glutamate) deficiency as an infant. Symptoms include confusion, memory loss, restlessness, behavioral problems, seizures, and coma.

Research groups studying this disease

Urea Cycle Disorders
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Urea Cycle Disorders Consortium (UCDC)

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Recruiting

Long-term observation of the impact of UCDs on physical and neurological functioning, the relationship between health indicators and disease severity and the efficiency of UCD therapies.

Study of how UCDs affect thinking, body chemistry and brain structure using magnetic resonance imaging (MRI) and behavioral testing.

Leads the fight to conquer urea cycle disorders (UCD) and drive critical research to improve outcomes while supporting families.