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

Abetalipoproteinemia


Synonyms of Abetalipoproteinemia
  • ABL
  • Bassen-Kornzweig Syndrome
  • Low Density B-lipoprotein Deficiency
  • Microsomal Triglyceride Transfer Protein Deficiency
  • MTP Deficiency

Disorder Subdivisions



    General Discussion
    Abetalipoproteinemia is a rare inherited disorder of fat metabolism. Abnormalities in fat metabolism result in malabsorption of dietary fat and various essential vitamins. Affected individuals experience progressive neurological deterioration, muscle weakness, difficulty walking, and blood abnormalities including a condition in which the red blood cells are malformed (acanthocytosis) resulting in low levels of circulating red blood cells (anemia). Affected individuals may also develop degeneration of the retina of the eyes potentially resulting in loss of vision, a condition known as retinitis pigmentosa. Abetalipoproteinemia is inherited as an autosomal recessive trait.

    Organizations related to Abetalipoproteinemia
    • A Cure For Bassen Kornzweig Foundation
      4509 South Michigan Ave. #3N
      Chicago IL 60653
      Phone #: 773-703-4577
      800 #: N/A
      e-mail: info@bassenkornzweigfoundation.org
      Home page: http://www.bassenkornzweigfoundation.org
    • Abetalipoproteinemia Collaboration Foundation
      P.O. Box 8293
      Cincinnati OH 45208
      Phone #: 513-557-3808
      800 #: N/A
      e-mail: shelly.rudnick@abetalipoproteinemia.org
      Home page: http://www.abetalipoproteinemia.org
    • Abetalipoproteinemia Support Group
      Ruth Gold
      None None None
      Phone #: 480--65-9-0540
      800 #: N/A
      e-mail: N/A
      Home page: http://www.yahoogroups.com
    • 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
    • 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
    • NIH/National Heart, Lung and Blood Institute
      31 Center Drive MSC 2480
      Bethesda MD 20892-2480
      Phone #: 301-592-8573
      800 #: --
      e-mail: nhlbiinfo@rover.nhlbi.nih.gov
      Home page: http://www.nhlbi.nih.gov/
    • NIH/National Institute of Diabetes, Digestive & Kidney Diseases
      Endocrine Diseases Metabolic Diseases Branch
      Bethesda MD 20892-3570
      Phone #: 301-654-3810
      800 #: --
      e-mail: NDDIC@info.niddk.nih.gov
      Home page: http://www.niddk.nih.gov
    • National Lipid Diseases Foundation
      1201 Corbin Street
      Elizabeth NJ 07201
      Phone #: 908-527-8000
      800 #: 800-527-8005
      e-mail: N/A
      Home page: N/A
    • Retinitis Pigmentosa International
      P.O. Box 900
      Woodland Hills CA 91365
      Phone #: 818-992-0500
      800 #: 800-344-4877
      e-mail: info@international.org
      Home page: http://www.rpinternational.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