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Citrullinemia Summary

Description: A group of diseases related to a deficiency of the enzyme ARGININOSUCCINATE SYNTHASE which causes an elevation of serum levels of CITRULLINE. In neonates, clinical manifestations include lethargy, hypotonia, and SEIZURES. Milder forms also occur. Childhood and adult forms may present with recurrent episodes of intermittent weakness, lethargy, ATAXIA, behavioral changes, and DYSARTHRIA. (From Menkes, Textbook of Child Neurology, 5th ed, p49)

Also Known As: Argininosuccinic Acid Synthase Deficiency Disease; Argininosuccinic Acid Synthetase Deficiency Disease; Argininosuccinic Acid Synthetase Deficiency Disease, Partial; Argininosuccinic Acid Synthetase Deficiency, Complete; Citrullinemia, Classical Show All >>

Networked: 265 relevant articles (10 outcomes, 12 trials/studies) for this Disease

Key Drugs and Agents for Citrullinemia

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Argininosuccinate Synthase (Argininosuccinate Synthetase) : 3 outcomes 3 studies in 85 results : IBA
  2. Urea (Carbamide) : 1 outcome 1 study in 46 results : FDA 6 Generic
  3. Ligases : 1 outcome in 14 results : IBA
  4. Amino Acids : 1 outcome in 8 results : FDA 53
  5. Argininosuccinate Lyase : 1 outcome in 5 results : IBA
  6. Orotic Acid : 1 outcome in 4 results : IBA
  7. Pyruvic Acid (Pyruvate) : 1 outcome in 3 results : IBA
  8. Sodium : 1 outcome in 3 results : IBA
  9. Carbamyl Phosphate (Carbamoyl Phosphate) : 1 outcome in 3 results : IBA
  10. Nitrogen : 1 outcome in 2 results : IBA
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Diseases Related to Citrullinemia

  1. Argininosuccinic Aciduria
  2. Coma (Comas)
  3. Phenylketonurias (Phenylketonuria)
  4. Chronic Kidney Failure (Chronic Renal Failure)
  5. Hyperammonemia
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Key Therapies for Citrullinemia

Efficacy Chart >>
  1. Liver Transplantation : 1 outcome 1 study in 20 results
  2. Transplants (Transplant) : 1 outcome in 6 results
  3. Renal Dialysis (Hemodialysis) : 1 outcome in 3 results
  4. Carbohydrate-Restricted Diet (Low Carbohydrate Diet) : 1 outcome in 2 results
  5. Anesthesia : 1 study in 1 result
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