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Citrullinemia

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; Citrullinemia, Late-Onset; Citrullinemia, Neonatal; Citrullinemia, Type I; Citrullinuria; Complete Argininosuccinic Acid Synthetase Deficiency Disease; Deficiency, Argininosuccinic Acid Synthetase, Complete; Deficiency, Argininosuccinic Acid Synthetase, Partial; Partial Argininosuccinic Acid Synthetase Deficiency Disease; ASS Deficiencies; Argininosuccinate Synthetase Deficiencies; Citrullinemia, Late Onset; Citrullinemias; Citrullinemias, Classic; Citrullinurias; Classic Citrullinemia; Classic Citrullinemias; Classical Citrullinemia; Classical Citrullinemias; Deficiencies, Argininosuccinate Synthetase; Deficiency, ASS; Deficiency, Argininosuccinate Synthetase; Late-Onset Citrullinemia; Late-Onset Citrullinemias; Neonatal Citrullinemia; Neonatal Citrullinemias; Type I Citrullinemia; Type I Citrullinemias; ASS Deficiency; Argininosuccinate Synthase Deficiency Disease; Argininosuccinate Synthetase Deficiency; Argininosuccinic Acid Synthetase Deficiency; Citrullinemia 1; Citrullinemia Type 1; Citrullinemia, Classic; Deficiency Disease, Argininosuccinate Synthase; Deficiency Disease, Argininosuccinic Acid Synthase
Networked: 352 relevant articles (13 outcomes, 18 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Argininosuccinic Aciduria
2. Phenylketonurias (Phenylketonuria)
3. Coma (Comas)
4. Dyskinesias (Dyskinesia)
5. Chronic Kidney Failure (Chronic Renal Failure)

Experts

1. Kobayashi, Keiko: 35 articles (01/2013 - 01/2002)
2. Saheki, Takeyori: 31 articles (08/2013 - 01/2002)
3. Kobayashi, K: 12 articles (06/2009 - 12/2000)
4. Häberle, Johannes: 11 articles (11/2021 - 11/2003)
5. Yazaki, Masahide: 11 articles (05/2021 - 04/2004)
6. Iijima, Mikio: 11 articles (11/2008 - 04/2002)
7. Saheki, T: 10 articles (12/2001 - 12/2000)
8. Ohura, Toshihiro: 8 articles (05/2021 - 05/2003)
9. Okano, Yoshiyuki: 7 articles (01/2021 - 11/2003)
10. Ikeda, Shu-ichi: 7 articles (08/2013 - 10/2003)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Citrullinemia:
1. Argininosuccinate Synthase (Argininosuccinate Synthetase)IBA
2. Urea (Carbamide)FDA LinkGeneric
3. Ligases (Synthetase)IBA
4. EnzymesIBA
5. Amino AcidsFDA Link
6. Arginine (L-Arginine)FDA Link
7. Carbamyl Phosphate (Carbamoyl Phosphate)IBA
8. Pyruvic Acid (Pyruvate)IBA
9. Orotic AcidIBA
10. NitrogenIBA

Therapies and Procedures

1. Therapeutics
2. Liver Transplantation
3. Carbohydrate-Restricted Diet (Low Carbohydrate Diet)
4. Renal Dialysis (Hemodialysis)
5. Protein-Restricted Diet (Diet, Protein Restricted)