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It is possible that the main title of the report Schindler 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.
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.
CLIMB (Children Living with Inherited Metabolic Diseases)
176 Nantwich Road
Crewe, CW2 6BG
Vaincre Les Maladies Lysosomales
2 Ter Avenue
National Tay-Sachs and Allied Diseases Association, Inc.
2001 Beacon Street
Brookline, MA 02146-4227
1825 K Street NW, Suite 1200
Washington, DC 20006
NIH/National Institute of Neurological Disorders and Stroke
P.O. Box 5801
Bethesda, MD 20824
International Advocate For Glycoprotein Storage Diseases
20880 Canyon View Drive
Saratoga, CA 95070
Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg, MD 20898-8126
PO Box 241956
Los Angeles, CA 90024
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
This is an abstract of a report from the National Organization for Rare Disorders (NORD). A copy of the complete report can be downloaded free from the NORD website for registered users. The complete report contains additional information including symptoms, causes, affected population, related disorders, standard and investigational therapies (if available), and references from medical literature. For a full-text version of this topic, 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. 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
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Last Updated: 2/2/2012
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