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Hyperargininemia

A rare autosomal recessive disorder of the urea cycle. It is caused by a deficiency of the hepatic enzyme ARGINASE. Arginine is elevated in the blood and cerebrospinal fluid, and periodic HYPERAMMONEMIA may occur. Disease onset is usually in infancy or early childhood. Clinical manifestations include seizures, microcephaly, progressive mental impairment, hypotonia, ataxia, spastic diplegia, and quadriparesis. (From Hum Genet 1993 Mar;91(1):1-5; Menkes, Textbook of Child Neurology, 5th ed, p51)
Also Known As:
Deficiency Disease, Arginase; ARG1 Deficiencies; Arginase Deficiencies; Arginase Deficiency Diseases; Deficiencies, ARG1; Deficiencies, Arginase; Deficiency Diseases, Arginase; Deficiency, ARG1; Deficiency, Arginase; Hyperargininemias; ARG1 Deficiency; Arginase Deficiency; Arginase Deficiency Disease; Argininemia
Networked: 128 relevant articles (1 outcomes, 7 trials/studies)

Relationship Network

Disease Context: Research Results

Related Diseases

1. Inborn Urea Cycle Disorders
2. Citrullinemia
3. Propionic Acidemia
4. Tyrosinemias (Tyrosinemia)
5. Metabolic Diseases (Metabolic Disease)

Experts

1. Cederbaum, Stephen D: 8 articles (10/2014 - 07/2002)
2. Wyse, Angela T S: 8 articles (08/2014 - 07/2002)
3. Delwing, Débora: 7 articles (09/2009 - 07/2002)
4. Grody, Wayne W: 5 articles (10/2014 - 07/2002)
5. Wajner, Moacir: 5 articles (03/2007 - 07/2002)
6. Delwing, Daniela: 4 articles (02/2008 - 07/2002)
7. Bhargava, Ragini: 3 articles (10/2014 - 10/2012)
8. Lipshutz, Gerald S: 3 articles (10/2014 - 10/2012)
9. Hu, Chuhong: 3 articles (10/2014 - 10/2012)
10. Marescau, Bart: 3 articles (11/2013 - 02/2008)

Drugs and Biologics

Drugs and Important Biological Agents (IBA) related to Hyperargininemia:
1. Arginine (L-Arginine)FDA Link
2. Messenger RNA (mRNA)IBA
3. EnzymesIBA
4. Chemokine CCL2 (Monocyte Chemoattractant Protein 1)IBA
5. Interleukin-13IBA
6. CytokinesIBA
7. HomoarginineIBA
11/01/1987 - "The present results suggest that in patients with hyperargininemia other factors such as arginine and its metabolites including GVA, GAA, ArgA and homoarginine may cause the neurological symptoms. "
12/27/2001 - "In the present study we investigated the in vitro effects of arginine, N-acetylarginine, argininic acid and homoarginine on some oxidative stress parameters in rat brain in the hope to identify a possible mechanism for the brain damage in hyperargininemia. "
08/14/1999 - "Considering that some GC are epileptogenic and cause a decrease in membrane fluidity and that Na+,K(+)-ATPase, a membrane-bound enzyme, is essential for cellular excitability and is decreased in experimental and human epilepsy, in the present study we determined the in vitro effects of Arg, N-acetylarginine (NAA), argininic acid (AA) and homoarginine (HA) on the activity of Na+,K(+)-ATPase in the synaptic plasma membrane from cerebral cortex of young rats in the hope to identify a possible mechanism for the brain damage in hyperargininemia. "
04/01/2003 - "Tissue accumulation of arginine (Arg), N-acetylarginine (NA), argininic acid (AA) and homoarginine (HA) occurs in hyperargininemia, an inborn error of the urea cycle. "
03/01/1991 - "The effects of arginine, homoarginine, alpha-keto-delta-guanidinovaleric acid and argininic acid (guanidino compounds that were found to be increased in hyperargininemia) were evaluated on responses to gamma-aminoburtyric acid (GABA) and glycine (Gly) on mouse neurons in primary dissociated cell culture. "
8. argininic acidIBA
12/27/2001 - "In the present study we investigated the in vitro effects of arginine, N-acetylarginine, argininic acid and homoarginine on some oxidative stress parameters in rat brain in the hope to identify a possible mechanism for the brain damage in hyperargininemia. "
08/14/1999 - "Considering that some GC are epileptogenic and cause a decrease in membrane fluidity and that Na+,K(+)-ATPase, a membrane-bound enzyme, is essential for cellular excitability and is decreased in experimental and human epilepsy, in the present study we determined the in vitro effects of Arg, N-acetylarginine (NAA), argininic acid (AA) and homoarginine (HA) on the activity of Na+,K(+)-ATPase in the synaptic plasma membrane from cerebral cortex of young rats in the hope to identify a possible mechanism for the brain damage in hyperargininemia. "
04/01/2003 - "Tissue accumulation of arginine (Arg), N-acetylarginine (NA), argininic acid (AA) and homoarginine (HA) occurs in hyperargininemia, an inborn error of the urea cycle. "
03/01/1991 - "The effects of arginine, homoarginine, alpha-keto-delta-guanidinovaleric acid and argininic acid (guanidino compounds that were found to be increased in hyperargininemia) were evaluated on responses to gamma-aminoburtyric acid (GABA) and glycine (Gly) on mouse neurons in primary dissociated cell culture. "
01/01/1990 - "The guanidino compounds guanidine, methylguanidine, creatinine, guanidinosuccinic acid (increased in uremia) and arginine, homoarginine, alpha-keto-delta-guanidinovaleric acid and argininic acid (increased in hyperargininemia) decreased both GABA- and GLY-responses. "
9. CitrullineIBA
10. Nitric Oxide (Nitrogen Monoxide)FDA Link

Therapies and Procedures

1. Enzyme Replacement Therapy
2. Liver Transplantation
3. Protein-Restricted Diet (Diet, Protein Restricted)
4. Erythrocyte Transfusion
5. Whole Blood Exchange Transfusion