Diseases & Conditions


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Argininosuccinic Aciduria


Synonyms of Argininosuccinic Aciduria
  • Arginino Succinase Deficiency
  • Argininosuccinate Lyase Deficiency
  • Argininosuccinate Lyase Deficiency
  • ASA Deficiency
  • ASL Deficiency

Disorder Subdivisions



    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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    Organizations related to Argininosuccinic Aciduria
    • ASA Kids
      895 Morning Glory
      Bridge City TX 77611
      Phone #: 409-735-4332
      800 #: --
      e-mail: asakidsonline@yahoo.com
      Home page: http://www.asakids.org
    • American Kidney Fund, Inc.
      6110 Executive Boulevard
      Rockville MD 20852
      Phone #: 301-881-3052
      800 #: 800-638-8299
      e-mail: helpline@kideyfund.org
      Home page: http://www.kidneyfund.org
    • Brusilow, Saul, M.D.
      Children's Medical and Surgical Center
      Baltimore MD 21205
      Phone #: 410-955-0885
      800 #: --
      e-mail: N/A
      Home page: N/A
    • CLIMB (Children Living with Inherited Metabolic Diseases)
      Climb Building
      Crewe Intl CW2 6BG
      Phone #: +44- 87-0 7700 325
      800 #: --
      e-mail: info@climb.org.uk
      Home page: http://www.CLIMB.org.uk
    • MUMS (Mothers United for Moral Support, Inc) National Parent-to-Parent Network
      150 Custer Court
      Green Bay WI 54301-1243
      Phone #: 920-336-5333
      800 #: 877-336-5333
      e-mail: mums@netnet.net
      Home page: http://www.netnet.net/mums/
    • Madisons Foundation
      PO Box 241956
      Los Angeles CA 90024
      Phone #: 310-264-0826
      800 #: N/A
      e-mail: getinfo@madisonsfoundation.org
      Home page: http://www.madisonsfoundation.org
    • NIH/National Digestive Diseases Information Clearinghouse
      2 Information Way
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: 800-891-5389
      e-mail: nddic@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov
    • National Kidney Foundation
      30 East 33rd Street
      New York NY 10016
      Phone #: 212-889-2210
      800 #: 800-622-9010
      e-mail: info@kidney.org
      Home page: http://www.kidney.org
    • National Urea Cycle Disorders Foundation
      4841 Hill Street
      La Canada CA 91011
      Phone #: 818-790-2460
      800 #: 800-386-8233
      e-mail: info@nucdf.org
      Home page: http://www.nucdf.org



    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

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