Argininosuccinic Aciduria

Important
It is possible that the main title of the report Argininosuccinic Aciduriais not the name you expected.

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.
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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe
Intl
CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
info@climb.org.uk
http://www.CLIMB.org.uk

National Urea Cycle Disorders Foundation
4841 Hill Street
La Canada
CA
91011
Tel: (818)790-2460
Fax: (818)952-2184
800: (800)386-8233
info@nucdf.org
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
800: (800)638-8299
helpline@kideyfund.org
http://www.kidneyfund.org

National Kidney Foundation
30 East 33rd Street
New York
NY
10016
Tel: (212)889-2210
Fax: (212)689-9261
800: (800)622-9010
info@kidney.org
http://www.kidney.org

Brusilow, Saul, M.D.
Children's Medical and Surgical Center
Division of Metabolic Diseases
Baltimore
MD
21205
Tel: (410)955-0885NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda
MD
20892-3570
Tel: (301)654-3810
Fax: (301)907-8906
800: (800)891-5389
nddic@info.niddk.nih.gov
http://www.niddk.nih.gov

ASA Kids
895 Morning Glory
Bridge City
TX
77611
Tel: (409)735-4332
asakidsonline@yahoo.com
http://www.asakids.org

MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
150 Custer Court
Green Bay
WI
54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
800: (877)336-5333
mums@netnet.net
http://www.netnet.net/mums/

For a Complete Report:

This is an abstract of a report from the National Organization for Rare Disorders, Inc. ® (NORD). A copy of the complete report can be obtained for a small fee by visiting the NORD website. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational treatments (if available), and references from medical literature. For a full-text version of this topic, see http://www.rarediseases.org/search/rdblist.html

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.

WebMD Medical Reference from the National Organization of Rare Disorders

Last Updated: April 11, 2008

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