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Carbamoyl-Phosphate Synthase I Deficiency Disease
A urea cycle disorder manifesting in infancy as lethargy, emesis, seizures, alterations of muscle tone, abnormal eye movements, and an elevation of serum ammonia. The disorder is caused by a reduction in the activity of hepatic mitochondrial CARBAMOYL-PHOSPHATE SYNTHASE (AMMONIA). (Menkes, Textbook of Child Neurology, 5th ed, pp50-1)
Drugs by status
Phase 2 trials (1)
Organizations
Organization Involved with Phase 2 Indications (12)
- Cytonet GmbH & Co. KG
- National Institutes of Health (NIH)
- Children's National Research Institute
- University of Pennsylvania
- University of Pittsburgh
- Case Western Reserve University
- Harvard University
- Stanford University
- University of California, Los Angeles
- Icahn School of Medicine at Mount Sinai
- Children's National Medical Center
- University of Colorado