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

Galactosemia


Synonyms of Galactosemia
  • Classic Galactosemia
  • Galactokinase deficiency
  • Galactose-1-Phosphate Uridyl Transferase Deficiency
  • Galactose-6-phosphatase emirase deficiency
  • GALT Deficiency

Disorder Subdivisions



    General Discussion
    Galactosemia is a rare, hereditary disorder of carbohydrate metabolism that affects the body?s ability to convert galactose (a sugar contained in milk, including human mother?s milk) to glucose (a different type of sugar). Galactose is converted to glucose by a series of three enzyme reactions. The disorder is caused by a deficiency of an enzyme known as galactose-1-phosphate uridyl transferase which is vital to this process.

    Galactosemia may also be referred to as classic galactosemia because a few variants of the gene for galactosemia have been identified. One variant causes a milder form of the disorder known as Duarte galactosemia. Classic galactosemia is the most severe form.

    Because milk is the staple of an infant's diet, early diagnosis and treatment of this disorder is absolutely essential to avoid serious lifelong disability.

    Organizations related to Galactosemia
    • American Liver Foundation
      75 Maiden Lane
      New York NY 10038
      Phone #: 212-668-1000
      800 #: 800-465-4837
      e-mail: info@liverfoundation.org
      Home page: http://www.liverfoundation.org
    • 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
    • Children's Liver Alliance
      None
      None IN None
      Phone #: N/A
      800 #: --
      e-mail: mail@liverkids.org.au
      Home page: http://www.liverkids.org.au
    • Cochrane Cystic Fibrosis and Genetic Disorders Review Group
      Institute of Child Health
      Liverpool None L12 2 AP
      Phone #: +44- (0-) 1512525696
      800 #: --
      e-mail: cfgd@liv.ac.uk
      Home page: http://www.liv.ac.uk/cfgd/
    • Galactosaemia Support Group
      31 Cotysmore Road
      West Midlands None B75 6BJ
      Phone #: N/A
      800 #: --
      e-mail: sue@gsg1.freeserve.co.uk
      Home page: http://www.galactosaemia.org/
    • 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
    • Parents of Galactosemic Children, Inc.
      1519 Magnolia Bluff
      Gautier MS 39553
      Phone #: 228-497-5886
      800 #: 866-900-7421
      e-mail: president@galactosemia.org
      Home page: http://www.galactosemia.org
    • Sj?ldne Diagnoser / Rare Disorders Denmark
      Frederiksholms Kanal 2, 3rd Floor
      Copenhagen K None 1220
      Phone #: 45 -33 -14 00 10
      800 #: N/A
      e-mail: mail@sjaeldnediagnoser
      Home page: http://www.raredisorders.dk



    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