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Copyright 1986, 1987, 1990, 1993, 1996, 1997, 2001, 2002
Synonyms of Argininosuccinic Aciduria
- Arginino Succinase Deficiency
- Argininosuccinate Lyase Deficiency
- Argininosuccinate Lyase Deficiency
- ASA Deficiency
- ASL Deficiency
Disorder Subdivisions
General Discussion
Argininosuccinic aciduria is a rare inherited disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). Argininosuccinate lyase 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 this enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Affected infants may experience vomiting, refusal to eat, progressive lethargy, and coma. Argininosuccinic aciduria 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 Argininosuccinic Aciduria
- ASA Kids
895 Morning Glory
Bridge City TX 77611
Phone #: 409-735-4332
800 #: --
e-mail: asakidsonline@yahoo.com
Home page: http://www.asakids.org
- American Kidney Fund, Inc.
6110 Executive Boulevard
Suite 1010
Rockville MD 20852
Phone #: 301-881-3052
800 #: 800-638-8299
e-mail: helpline@kideyfund.org
Home page: http://www.kidneyfund.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
- 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
- MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay WI 54301-1243
Phone #: 920-336-5333
800 #: 877-336-5333
e-mail: mums@netnet.net
Home page: http://www.netnet.net/mums/
- 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 Kidney Foundation
30 East 33rd Street
New York NY 10016
Phone #: 212-889-2210
800 #: 800-622-9010
e-mail: info@kidney.org
Home page: http://www.kidney.org
- 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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