Important 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.
Arginino Succinase 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) Climb Building 176 Nantwich Road Crewe, CW2 6BG United Kingdom Tel: 4408452412173 Fax: 4408452412174 Email: email@example.com Internet: http://www.CLIMB.org.uk
National Urea Cycle Disorders Foundation 75 South Grand Avenue Pasadena, CA 91105-1602 Tel: (626)578-0833 Fax: (626)578-0823 Tel: (800)386-8233 Email: firstname.lastname@example.org Internet: http://www.nucdf.org
American Kidney Fund, Inc. 11921 Rockville Pike Suite 300 Rockville, MD 20852 USA Tel: (800)638-8299 Email: email@example.com Internet: http://www.kidneyfund.org
National Kidney Foundation 30 East 33rd Street New York, NY 10016 Tel: (212)889-2210 Fax: (212)689-9261 Tel: (800)622-9010 Email: firstname.lastname@example.org Internet: http://www.kidney.org
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Madisons Foundation PO Box 241956 Los Angeles, CA 90024 Tel: (310)264-0826 Fax: (310)264-4766 Email: email@example.com Internet: http://www.madisonsfoundation.org
Urea Cycle Disorders Consortium Children's National Medical Center 111 Michigan Avenue, NW Washington, DC 20010 Tel: (815)333-4014 Email: firstname.lastname@example.org Internet: http://rarediseasesnetwork.epi.usf.edu/ucdc/index.htm
Medical Home Portal Dept. of Pediatrics University of Utah P.O. Box 581289 Salt Lake City, UT 84158 Tel: (801)587-9978 Fax: (801)581-3899 Email: email@example.com Internet: http://www.medicalhomeportal.org
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
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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 Copyright 1986, 1987, 1990, 1993, 1996, 1997, 2001, 2002 National Organization for Rare Disorders, Inc.
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