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Copyright 1986, 1987, 1990, 1992, 1993, 1996, 1997, 2001
Synonyms of Arginase Deficiency
- ARG Deficiency
- Argininemia
- Hyperargininemia
Disorder Subdivisions
General Discussion
Arginase deficiency is a rare inherited disorder characterized by complete or partial lack of the enzyme arginase. Arginase is one of six enzymes that play a role in the breakdown and removal of nitrogen from the body, a process known as the urea cycle. The lack of the arginase enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood and arginine (hyperarginemia) in the blood and cerebrospinal fluid. Affected infants may exhibit mental retardation, seizures, and spasticity. Arginase deficiency is inherited as an autosomal recessive trait.
The urea cycle disorders are a group of rare disorders affecting the urea cycle, a series of biochemical processes in which nitrogen is converted into urea and removed from the body through the urine. Nitrogen is a waste product of protein metabolism. Failure to break down nitrogen results in the abnormal accumulation of nitrogen, in the form of ammonia, in the blood.
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Organizations related to Arginase Deficiency
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- Brusilow, Saul, M.D.
Children's Medical and Surgical Center
Division of Metabolic Diseases
Baltimore MD 21205
Phone #: 410-955-0885
800 #: --
e-mail: N/A
Home page: N/A
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Cederbaum, Stephen, M.D.
Department of Psychiatry and Pediatrics
UCLA Medical School
Los Angeles CA 90024
Phone #: 310-825-0402
800 #: --
e-mail: N/A
Home page: N/A
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Madisons Foundation
PO Box 241956
Los Angeles CA 90024
Phone #: 310-264-0826
800 #: N/A
e-mail: getinfo@madisonsfoundation.org
Home page: http://www.madisonsfoundation.org
- NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: nddic@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
- National Urea Cycle Disorders Foundation
75 South Grand Avenue
Pasadena CA 91105-1602
Phone #: 626-578-0833
800 #: 800-386-8233
e-mail: info@nucdf.org
Home page: http://www.nucdf.org
- Urea Cycle Disorders Consortium
Children’s Research Institute
Children’s National Medical Center
111 Michigan Avenue, NW
Washington DC 20010
Phone #: N/A
800 #: N/A
e-mail: jseminar@cnmc.org
Home page: http://rarediseasesnetwork.epi.usf.edu/ucdc/index.htm
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