Important
It is possible that the main title of the report Abetalipoproteinemia is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report.

Synonyms

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

Disorder Subdivisions

• None

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.

Resources

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)997-4488
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Retinitis Pigmentosa International
P.O. Box 900
Woodland Hills, CA 91365
Tel: (818)992-0500
Fax: (818)992-3265
Tel: (800)344-4877
Email: info@international.org
Internet: http://www.rpinternational.org

National Lipid Diseases Foundation
1201 Corbin Street
Elizabeth, NJ 07201
Tel: (908)527-8000
Fax: (908)527-8004
Tel: (800)527-8005

NIH/National Heart, Lung and Blood Institute
31 Center Drive MSC 2480
Building 31A Rm 4A16
Bethesda, MD 20892-2480
Tel: (301)592-8573
Fax: (240)629-3246
Email: nhlbiinfo@rover.nhlbi.nih.gov
Internet: http://www.nhlbi.nih.gov/

NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Endocrine Diseases Metabolic Diseases Branch
2 Information Way
Bethesda, MD 20892-3570
Tel: (301)654-3810
Fax: (301)496-7422
Email: NDDIC@info.niddk.nih.gov
Internet: http://www.niddk.nih.gov

MUMS National Parent-to-Parent Network
150 Custer Court
Green Bay, WI 54301-1243
USA
Tel: (920)336-5333
Fax: (920)339-0995
Tel: (877)336-5333
Email: mums@netnet.net
Internet: http://www.netnet.net/mums/

Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
Tel: (301)251-4925
Fax: (301)251-4911
Tel: (888)205-2311
TDD: (888)205-3223
Email: ordr@od.nih.gov
Internet: http://rarediseases.info.nih.gov/Default.aspx

Abetalipoproteinemia Support Group
Tel: 480-659-0540
Fax: Cell: 480-688-9027
Internet: http://www.yahoogroups.com

Madisons Foundation
PO Box 241956
Los Angeles, CA 90024
Tel: (310)264-0826
Fax: (310)264-4766
Email: getinfo@madisonsfoundation.org
Internet: http://www.madisonsfoundation.org

Abetalipoproteinemia Collaboration Foundation
P.O. Box 8293
Cincinnati, OH 45208
Tel: (513)557-3808
Fax: (513)533-3947
Email: shelly.rudnick@abetalipoproteinemia.org
Internet: http://www.abetalipoproteinemia.org

A Cure For Bassen Kornzweig Foundation
902 North Richmond 1st Floor
Chicago, IL 60622
Tel: (773)486-9247
Email: info@bassenkornzweigfoundation.org
Internet: http://www.bassenkornzweigfoundation.org

For a Complete Report

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