National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Argininosuccinic Aciduria is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.
- ASL Deficiency
- Arginino Succinase Deficiency
- ASA Deficiency
- Argininosuccinate Lyase Deficiency
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
National Urea Cycle Disorders Foundation
75 South Grand Avenue
Pasadena, CA 91105-1602
American Kidney Fund, Inc.
11921 Rockville Pike
Rockville, MD 20852
National Kidney Foundation
30 East 33rd Street
New York, NY 10016
242 Loch Lomond Road
Bridge City, TX 77611
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Urea Cycle Disorders Consortium
Children's National Medical Center
111 Michigan Avenue, NW
Washington, DC 20010
Medical Home Portal
Dept. of Pediatrics
University of Utah
P.O. Box 581289
Salt Lake City, UT 84158
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It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report
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Last Updated: 4/11/2008
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