Diseases & Conditions


A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

Glutaricaciduria I


Synonyms of Glutaricaciduria I
  • Dicarboxylic Aminoaciduria
  • GA I
  • Glutaricacidemia I
  • Glutaric Acidemia I
  • Glutaric Aciduria I
  • Glutaryl-CoA Dehydrogenase Deficiency
  • Glutaurate-Aspartate Transport Defect

Disorder Subdivisions



    General Discussion
    Glutaricaciduria I (GA-I) is a rare hereditary metabolic disorder, caused by a deficiency of the enzyme glutaryl-CoA dehydrogenase. One of a group of disorders known as organic acidemias, it is characterized by an enlarged head (macrocephaly), decreased muscle tone (hypotonia), vomiting, and excess acid in the blood. Affected individuals may also have involuntary movements of the trunk and limbs (dystonia or athetosis) and mental retardation may also occur.

    Babies with glutaricaciduria I are sometimes mistakenly thought by medical professionals to be abused babies because they present with subdural and/or retinal hemorrhages.

    Organizations related to Glutaricaciduria I
    • 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
    • International Organization of Glutaric Acidemia
      Rd #4, Box 299-A
      Blairsville PA 15717
      Phone #: 724-459-0179
      800 #: --
      e-mail: mmetil@helicon.net
      Home page: http://www.glutaricacidemia.org
    • Lactic Acidosis Support Trust
      1A Whitley Close
      Cheshire None CW10 0NQ
      Phone #: 016-068-3719
      800 #: --
      e-mail: N/A
      Home page: N/A
    • 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
    • Organic Acidaemias UK
      5 Saxon Road
      Middlesex Intl TW15 1QL
      Phone #: 44--178-4-245989
      800 #: --
      e-mail: davidpriddy@bigfoot.com
      Home page: N/A
    • Organic Acidemia Association
      13210 35th Avenue North
      Plymouth MN 55441
      Phone #: 763-559-1797
      800 #: --
      e-mail: OAANews@aol.com
      Home page: http://www.oaanews.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