Lysosomal Free Sialic Acid Storage Disorders
National Organization for Rare Disorders, Inc.
It is possible that the main title of the report Lysosomal Free Sialic Acid Storage Disorders is not the name you expected.
Free sialic acid storage disorders are a group of related disorders characterized by the abnormal accumulation of sialic acid in various cells and tissues of the body. These disorders are generally broken down into three subtypes: infantile free sialic acid storage disease (ISSD), the most severe form; Salla disease, the mildest form; and intermediate Salla disease which is less severe than ISSD, but more serious than Salla disease. The specific symptoms associated with these disorders can vary greatly. All the disorders are characterized by some degree of degeneration of nerve cells (neurodegeneration) and cognitive impairment. Free sialic acid storage disorders occur because of mutations of the SLC17A5 gene and are inherited in an autosomal recessive fashion.
Free sialic acid storage disorders belong to a larger group of disorders known as lysosomal storage disorders. Lysosomes are membrane-bound compartments within cells. They contain enzymes that break down large molecules such as proteins, carbohydrates and fats into their building blocks. Low levels or inactivity of a transport protein known as sialin leads to the abnormal accumulation (storage) of sialic acid in the tissues of affected individuals. Sialin normally helps transport sialic acid out of lysosomes.
CLIMB (Children Living with Inherited Metabolic Diseases)
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- United Kingdom
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GOLD, Global Organisation For Lysosomal Diseases
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- Chalfont St Giles
- Buckinghamshire, HP8 4EW
- United Kingdom
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Hide & Seek Foundation for Lysosomal Disease Research
- 6475 East Pacific Coast Highway Suite 466
- Long Beach, CA 90803
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March of Dimes Birth Defects Foundation
- 1275 Mamaroneck Avenue
- White Plains, NY 10605
- Tel: (914)997-4488
- Fax: (914)997-4763
- Website: http://www.marchofdimes.com
Myelin Disorders Bioregistry Project (MDBP)
- Childrens National Medical Center, c/o Dr. Adeline Vanderver
- 111 Michigan Ave., NW
- Washington, DC 20010
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NIH/National Institute of Neurological Disorders and Stroke
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National Tay-Sachs and Allied Diseases Association, Inc.
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Vaincre Les Maladies Lysosomales
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For a Complete Report
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".
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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 firstname.lastname@example.org
Last Updated: 12/27/1969
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