Urea Cycle Disorders, Inborn
Rare congenital metabolism disorders of the urea cycle. The disorders are due to mutations that result in complete (neonatal onset) or partial (childhood or adult onset) inactivity of an enzyme, involved in the urea cycle. Neonatal onset results in clinical features that include irritability, vomiting, lethargy, seizures, NEONATAL HYPOTONIA; RESPIRATORY ALKALOSIS; HYPERAMMONEMIA; coma, and death. Survivors of the neonatal onset and childhood/adult onset disorders share common risks for ENCEPHALOPATHIES, METABOLIC, INBORN; and RESPIRATORY ALKALOSIS due to HYPERAMMONEMIA.
Subtype terms (5)
More specific conditions that are subtypes of Urea Cycle Disorders, Inborn in the MeSH hierarchy.
- Argininosuccinic Aciduria
3 drugs approved
- Carbamoyl-Phosphate Synthase I Deficiency Disease
1 drug approved
- Citrullinemia
1 drug experimental
- Hyperargininemia
2 drugs (1 approved, 1 experimental)
- Ornithine Carbamoyltransferase Deficiency Disease
11 drugs (3 approved, 8 experimental)
Drugs by status
Approved for this indication (3)
Phase 2 trials (8)
Phase 1 trials (1)
Other trials (5)
Organizations
Organization Involved with Phase 4 Indications (2)
Organization Involved with Phase 3 Indications (1)
Organization Involved with Phase 2 Indications (8)
Organization Involved with Phase 1 Indications (2)
Organization Involved with Other Experimental Indications (3)