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Argininosuccinic Aciduria

National Organization for Rare Disorders, Inc.

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.

Synonyms

  • ASL Deficiency
  • Arginino Succinase Deficiency
  • ASA Deficiency
  • Argininosuccinate Lyase Deficiency

Disorder Subdivisions

  • None

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.

Resources

Children Living with Inherited Metabolic Diseases (CLIMB)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: 0845 241 2174
Tel: 800 652 3181
Email: info.svcs@climb.org.uk
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: info@nucdf.org
Internet: http://www.nucdf.org

American Kidney Fund, Inc.
6110 Executive Boulevard
Suite. 1010
Rockville, MD 20852
USA
Tel: (301)881-3052
Fax: (301)881-0898
Tel: (800)638-8299
Email: mdemelo@kidneyfund.org
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: info@kidney.org
Internet: http://www.kidney.org

ASA Kids
242 Loch Lomond Road
Bridge City, TX 77611
Tel: (409)735-4332
Fax: (409)670-6865
Email: oliphint4@sbcglobal.net
Internet: http://asakids.net/home

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

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: getinfo@madisonsfoundation.org
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: jseminar@cnmc.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: mindy.tueller@utah.edu
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".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

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.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated:  4/11/2008
Copyright  1986, 1987, 1990, 1993, 1996, 1997, 2001, 2002 National Organization for Rare Disorders, Inc.

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