Diseases & Conditions


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Arginase Deficiency


Synonyms of Arginase Deficiency
  • ARG Deficiency
  • Argininemia
  • Hyperargininemia

Disorder Subdivisions



    General Discussion
    Arginase deficiency is a rare inherited disorder characterized by complete or partial lack of the enzyme arginase. Arginase 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 the arginase enzyme results in excessive accumulation of nitrogen, in the form of ammonia (hyperammonemia), in the blood and arginine (hyperarginemia) in the blood and cerebrospinal fluid. Affected infants may exhibit mental retardation, seizures, and spasticity. Arginase deficiency 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 Arginase Deficiency
    • 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
    • Cederbaum, Stephen, M.D.
      Department of Psychiatry and Pediatrics
      Los Angeles CA 90024
      Phone #: 310-825-0402
      800 #: --
      e-mail: N/A
      Home page: N/A
    • 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 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
    • The Arc (a national organization on mental retardation)
      1010 Wayne Ave
      Silver Spring MD 20910
      Phone #: 301-565-3842
      800 #: 800-433-5255
      e-mail: info@thearc.org
      Home page: http://www.thearc.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