Sandhoff Disease

Important
It is possible that the main title of the report Sandhoff Disease 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

Gangliosidosis Beta Hexosaminidase B Defeciency
Gangliosidosis GM2 Type 2
GM2-gangliosidosis, type ll
Hexosaminidases A and B deficiency

Disorder Subdivisions

None

General Discussion

Sandhoff disease is a lipid storage disorder characterized by a progressive deterioration of the central nervous system. The clinical symptoms of Sandhoff disease are identical to Tay-Sachs disease. Sandhoff disease is an autosomal recessive genetic disorder caused by an abnormal gene for the beta subunit of the hexosaminidase B enzyme. This gene abnormality results in a deficiency of hexosaminidase A and B that results in accumulation of fats (lipids) called GM2 gangliosides in the neurons and other tissues.

Resources

National Association for Visually Handicapped
22 West 21st Street
New York, NY 10010
USA
Tel: 2128893141
Fax: 2127272931
Email: staff@navh.org
Internet: http://www.navh.org

National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Suite 204
Brighton, MA 02135
USA
Tel: 6172774463
Fax: 6172770134
Tel: 8009068723
Email: info@ntsad.org
Internet: http://www.NTSAD.org

March of Dimes Birth Defects Foundation
1275 Mamaroneck Avenue
White Plains, NY 10605
Tel: (914)428-7100
Fax: (914)997-4763
Tel: (888)663-4637
Email: Askus@marchofdimes.com
Internet: http://www.marchofdimes.com

Blind Children's Fund
311 W. Broadway
Suite 1
Mt. Pleasant, MI 48858
Tel: (989)779-9966
Fax: (989)779-0015
Email: bcf@blindchildrensfund.org
Internet: http://www.blindchildrensfund.org

National Institute of Neurological Disorders and Stroke (NINDS)
31 Center Drive
8A07
Bethesda, MD 20892-2540
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Email: braininfo@ninds.nih.gov
Internet: http://www.ninds.nih.gov/

www.sandhoff.org
8825 Hastings Blvd.
Hastings, FL 32145
Tel: (386)202-0018
Email: admin@sandhoff.org
Internet: http://www.sandhoff.org

Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
Suite 302
North Hollywood, CA 91602-2828
Tel: (818)762-8621
Fax: (818)762-2502
Email: info@hideandseek.org
Internet: http://www.hideandseek.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

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: 8/7/2007
Copyright 1986, 1987, 1989, 1993, 1999, 2007 National Organization for Rare Disorders, Inc.

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