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Citrullinemia Summary

180 relevant articles (4 outcomes, 5 trials/studies) found for this Disease

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 >>

Key Drugs and Agents for Citrullinemia

Efficacy Chart >>
Drugs and Important Biological Agents (IBA) related to treatments:
  1. Argininosuccinate Synthase (Argininosuccinate Synthetase) : 2 outcomes 2 studies in 75 results : IBA
  2. Urea (Carbamide) : 1 outcome 1 study in 31 results : FDA 6 Generic
  3. Argininosuccinate Lyase : 1 outcome in 2 results : IBA
  4. Biopterin : 1 outcome in 1 result : IBA
  5. Citrulline : 1 study in 31 results : IBA
  6. Messenger RNA (mRNA) : 1 study in 14 results : IBA
  7. Arginine (L-Arginine) : 1 study in 10 results : FDA 26
  8. Transferases : 1 study in 2 results : IBA
  9. Diamond : 1 study in 1 result : IBA
  10. Carnitine (L-Carnitine) : 1 study in 1 result : FDA 9 Generic
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Diseases Related to Citrullinemia

  1. Phenylketonurias (Phenylketonuria)
  2. Chronic Kidney Failure (Chronic Renal Failure)
  3. Hyperammonemia
  4. Tyrosinemias (Tyrosinemia)
  5. Maple Syrup Urine Disease
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Key Therapies for Citrullinemia

Efficacy Chart >>
  1. Transplants (Transplant) : 1 outcome in 5 results
  2. Liver Transplantation : 10 results
  3. Transplantation (Transplant Recipients) : 2 results
  4. Continuous Ambulatory Peritoneal Dialysis (CAPD) : 1 result
  5. Peritoneal Dialysis : 1 result
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