Acanthocytosis

Important
It is possible that the main title of the report Acanthocytosis 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

Bassen-Kornzweig Syndrome
Low-Density Beta Lipoprotein Deficiency

Disorder Subdivisions

None

General Discussion

Acanthocytosis is a digestive disorder that is characterized by the absence of very low density lipoproteins (VLDL) and chylomicrons in the plasma. Chylomicrons are very small fatty droplets that are covered with a beta-lipoprotein and perform an essential function in fat transport in the blood and, thus, in fat metabolism. The absense of VLDL and of chylomicrons interferes with the absorption of fat and leads to excessive fats excretion (steatorrhea). Other symptoms include abnormal red blood cells (acanthocytes), a vision disorder (retinitis pigmentosa), and impaired muscle coordination (ataxia).
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Resources

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe, Intl CW2 6BG
United Kingdom
Tel: +44 870 7700 325
Fax: +44 870 7700 327
Email: info@climb.org.uk
Internet: http://www.CLIMB.org.uk

Chromosome
11435 Cronhill Drive
Owings Mills, MD 21117-2220
Tel: (410)568-0150
Fax: (410)363-2393
Tel: (800)683-5555
TDD: (800)683-5551
Email: info@blindness.org
Internet: http://www.fightblindness.org

National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton, MA 02135
USA
Tel: (617)277-4463
Fax: (617)277-0134
Tel: (800)906-8723
Email: info@ntsad.org
Internet: http://www.NTSAD.org

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

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 (Mothers United for Moral Support, Inc) 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/

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

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only. NORD recommends that affected individuals seek the advice or counsel of their own personal physicians.

It is possible that the title of this topic is not the name you selected. Please check the Synonyms listing to find the alternate name(s) and Disorder Subdivision(s) covered by this report

This disease entry is based upon medical information available through the date at the end of the topic. Since NORD's resources are limited, it is not possible to keep every entry in the Rare Disease Database completely current and accurate. Please check with the agencies listed in the Resources section for the most current information about this disorder.

For additional information and assistance about rare disorders, please contact the National Organization for Rare Disorders at P.O. Box 1968, Danbury, CT 06813-1968; phone (203) 744-0100; web site www.rarediseases.org or email orphan@rarediseases.org

Last Updated: 4/11/2008
Copyright 1987, 1988, 1989, 1993, 1999 National Organization for Rare Disorders, Inc.

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