Schindler disease

National Organization for Rare Disorders, Inc.

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Important
It is possible that the main title of the report Schindler disease is not the name you expected.

Disorder Subdivisions

  • None

General Discussion

Schindler disease is a rare inherited metabolic disorder characterized by the deficient activity of the lysosomal enzyme alpha-N-acetylgalactosaminidase (alpha-NAGA or alpha-galactosidase B). The enzyme defect leads to the abnormal accumulation of certain complex compounds (glycosphingolipids, glycoproteins, and oligosaccharides), which have terminal or preterminal N-acetylgalactosaminyl residues in many tissues of the body and in urine. Two major forms of Schindler disease exist - a severe form with onset in infancy (type I) and a milder form with onset in adulthood (type II). Some researchers have proposed a type III form of Schindler disease that is less severe than type I, but more severe than type II. The specific symptoms and severity of Schindler disease can vary from one person to another. Schindler disease is caused by mutations of the NAGA gene and is inherited as an autosomal recessive trait.

Schindler disease belongs to a group of diseases known as lysosomal storage disorders. Within cells, lysosomes are small compartments or organelles which are bound by membranes. They function as the primary digestive units of cells. Enzymes within lysosomes break down or digest particular nutrients and cellular debris. Low levels or inactivity of these enzymes leads to the abnormal accumulation of the substances that they normally breakdown, resulting in the enlargement and increased numbers of lysosomes within cells of the body, as well as leakage of their stored contents. These disturbances may interfere with normal cellular function and cause the disease manifestations.

Supporting Organizations

CLIMB (Children Living with Inherited Metabolic Diseases)

Climb Building
176 Nantwich Road
Crewe, CW2 6BG
United Kingdom
Tel: 4408452412173
Fax: 4408452412174
Email: enquiries@climb.org.uk
Website: http://www.CLIMB.org.uk

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
Website: http://rarediseases.info.nih.gov/GARD/

Hide & Seek Foundation for Lysosomal Disease Research

6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Tel: (877)621-1122
Fax: (866)215-8850
Email: info@hideandseek.org
Website: http://www.hideandseek.org

ISMRD

20880 Canyon View Drive
Saratoga, CA 95070
Email: info@ismrd.org
Website: http://www.ismrd.org/

International Advocate For Glycoprotein Storage Diseases

20880 Canyon View Drive
Saratoga, CA 95070
USA
Email: info@ismrd.org
Website: http://www.ismrd.org

NIH/National Institute of Neurological Disorders and Stroke

P.O. Box 5801
Bethesda, MD 20824
Tel: (301)496-5751
Fax: (301)402-2186
Tel: (800)352-9424
Website: http://www.ninds.nih.gov/

The Arc

1825 K Street NW, Suite 1200
Washington, DC 20006
Tel: (202)534-3700
Fax: (202)534-3731
Tel: (800)433-5255
Email: info@thearc.org
Website: http://www.thearc.org

Vaincre Les Maladies Lysosomales

2 Ter Avenue
Massy, 91300
France
Tel: 169754030
Fax: 160111583
Email: accueil@vml-asso.org
Website: http://www.vml-asso.org

For a Complete Report

This is an abstract of a report from the National Organization for Rare Disorders (NORD). For a full-text version of this report, go to www.rarediseases.org and click on Rare Disease Database under "Rare Disease Information".

The information provided in this report is not intended for diagnostic purposes. It is provided for informational purposes only.

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.

Last Updated:  2/2/2012
Copyright  2012 National Organization for Rare Disorders, Inc.