National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Argininosuccinic Aciduria is not the name you expected.
Argininosuccinic aciduria is a rare genetic disorder characterized by deficiency or lack of the enzyme argininosuccinate lyase (ASL). This enzyme 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 argininosuccinate lyase results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood. Ammonia is a neurotoxin, which means that it damages or inhibits the function of neurons, the cells of the central nervous system. Excess ammonia travels to the central nervous system through the blood, resulting in the symptoms and physical findings associated with the disorder. 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.
American Kidney Fund, Inc.
- 11921 Rockville Pike
- Suite 300
- Rockville, MD 20852
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- Website: http://www.kidneyfund.org
CLIMB (Children Living with Inherited Metabolic Diseases)
- Climb Building
- 176 Nantwich Road
- Crewe, CW2 6BG
- United Kingdom
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- Website: http://www.CLIMB.org.uk
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
- Website: http://rarediseases.info.nih.gov/GARD/
Medical Home Portal
- Dept. of Pediatrics
- University of Utah
- Salt Lake City, UT 84158
- Tel: (801)587-9978
- Fax: (801)581-3899
- Email: firstname.lastname@example.org
- Website: http://www.medicalhomeportal.org
National Kidney Foundation
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- New York, NY 10016
- Tel: (212)889-2210
- Fax: (212)689-9261
- Tel: (800)622-9010
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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
- Website: http://www.nucdf.org
Urea Cycle Disorders Consortium
- Children's National Medical Center
- 111 Michigan Avenue, NW
- Washington, DC 20010
- Tel: (815)333-4014
- Email: email@example.com
- Website: http://rarediseasesnetwork.epi.usf.edu/ucdc/index.htm
For a Complete Report
This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".
The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.
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.
This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.
Last Updated: 1/4/2016
Copyright 2016 National Organization for Rare Disorders, Inc.
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