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Inborn Urea Cycle Disorders Summary

Description: 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.

Also Known As: Urea Cycle Disorders, Inborn; Disorder, Urea Cycle; Disorders, Urea Cycle; Urea Cycle Disorder; Inborn Urea Cycle Disorder Show All >>

Networked: 257 relevant articles (4 outcomes, 18 trials/studies) for this Disease

Key Drugs and Agents for Inborn Urea Cycle Disorders

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Sodium : 1 outcome 2 studies in 20 results : IBA
  2. Urea (Carbamide) : 1 outcome 1 study in 24 results : FDA 6 Generic
  3. Nitrogen : 1 outcome 1 study in 21 results : IBA
  4. Enzymes : 1 outcome in 14 results : IBA
  5. Sodium Benzoate : 4 studies in 11 results : FDA 2
  6. Ammonia : 2 studies in 51 results : IBA
  7. phenylacetic acid (phenylacetate) : 2 studies in 9 results : FDA 2
  8. Branched-Chain Amino Acids : 2 studies in 4 results : IBA
  9. Ornithine Carbamoyltransferase (Ornithine Transcarbamylase) : 1 study in 24 results : IBA
  10. Arginine (L-Arginine) : 1 study in 14 results : FDA 19
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Diseases Related to Inborn Urea Cycle Disorders

  1. Ornithine Carbamoyltransferase Deficiency Disease
  2. Neoplasms (Cancer)
  3. Cystic Fibrosis (Mucoviscidosis)
  4. Hemoglobinopathies
  5. Hyperammonemia
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Key Therapies for Inborn Urea Cycle Disorders

Efficacy Chart >>
  1. Renal Dialysis (Hemodialysis) : 1 outcome in 3 results
  2. Liver Transplantation : 12 results
  3. Transplantation (Transplant Recipients) : 3 results
  4. Protein-Restricted Diet (Diet, Protein Restricted) : 2 results
  5. Peritoneal Dialysis : 2 results
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