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"Resources" on this report.
Copyright 2005
NORD is grateful to Bernard Zazula, MD, for assistance in the preparation of this report.
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
902 North Richmond 1st Floor
Chicago IL 60622
Phone #: 773-486-9247
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
None
None None None
Phone #: 480--65-9-0540
800 #: N/A
e-mail: N/A
Home page: http://www.yahoogroups.com
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- 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 #: 914-997-4488
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
Building 31A Rm 4A16
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
2 Information Way
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
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