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

Carnosinemia


Synonyms of Carnosinemia
  • Beta-Alanine-Pyruvate Aminotransferase
  • Carnosinase Deficiency
  • Hyper-Beta Carnosinemia
  • Serum Carnosinase Deficiency

Disorder Subdivisions



    General Discussion
    Carnosinemia is a very rare inherited metabolic disorder characterized by impaired neurological function and developmental delays. Symptoms that begin during infancy may include drowsiness, seizures that may be accompanied by involuntary jerking muscle movements of the arms, legs, or head (myoclonic seizures), and mental retardation.



    Organizations related to Carnosinemia
    • 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
    • March of Dimes Birth Defects Foundation
      1275 Mamaroneck Avenue
      White Plains NY 10605
      Phone #: 914-428-7100
      800 #: 888-663-4637
      e-mail: Askus@marchofdimes.com
      Home page: http://www.marchofdimes.com
    • 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