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Copyright 1986, 1990, 1995, 2000
Synonyms of Sialidosis
- Alpha-Neuraminidase Deficiency
- Cherry Red Spot and Myoclonus Syndrome
- Glycoprotein Neuraminidase, Deficiency of
- Lipomucopolysaccharidosis Type I
- ML I
- Mucolipidosis I
- Sialidase Deficiency
Disorder Subdivisions
- Sialidosis Type II (Infantile)
- Sialidosis Type I (Juvenile)
General Discussion
Sialidosis is a very rare inherited metabolic disorder characterized by a deficiency of the enzyme alpha-neuraminidase. This disorder belongs to a group of diseases known as lysosomal disorders. Lysosomes are particles bound in membranes within cells that break down certain fats and carbohydrates. The deficiency of alpha-neuraminidase that characterizes Sialidosis leads to the abnormal accumulation of certain complex carbohydrates (mucopolysaccharides) and certain fatty substances (mucolipids) in many tissues of the body. Previously known as Mucolipidosis I, Sialidosis belongs to a subgroup of lysosomal diseases known as Mucolipidoses.
The symptoms of Sialidosis Type I, which typically begin during the 2nd decade of life, may include sudden involuntary muscle contractions (myoclonus), the appearance of red spots (cherry-red macules) in the eyes, and/or other neurological findings. Sialidosis Type II may begin during infancy or later. It is characterized by the same visual characteristics as Sialidosis Type I, as well as other symptoms such as mildly coarse facial features, skeletal malformations, and/or mild mental retardation. Sialidosis is inherited as an autosomal recessive genetic trait.
Organizations related to Sialidosis
- Arc (a national organization on mental retardation)
1010 Wayne Ave
Suite 650
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: info@thearc.org
Home page: http://www.thearc.org/
- CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
176 Nantwich Road
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: info.svcs@climb.org.uk
Home page: http://www.CLIMB.org.uk
- Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Unionville
Ontario Intl L3R OM9
Phone #: 905--47-9-8701
800 #: 800--66-7-1846
e-mail: lori.mps@rogers.com
Home page: http://www.mpssociety.ca
- Genetic and Rare Diseases (GARD) Information Center
PO Box 8126
Gaithersburg MD 20898-8126
Phone #: 301-251-4925
800 #: 888-205-2311
e-mail: ordr@od.nih.gov
Home page: http://rarediseases.info.nih.gov/Default.aspx
- Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach CA 90803
Phone #: 877-621-1122
800 #: N/A
e-mail: info@hideandseek.org
Home page: http://www.hideandseek.org
- International Advocate For Glycoprotein Storage Diseases (ISMRD)
20880 Canyon View Drive
Saratoga CA 95070
Phone #: 410-628-9991
800 #: N/A
e-mail: info@ismrd.org
Home page: www.ismrd.org
- NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: nddic@info.niddk.nih.gov
Home page: http://www.niddk.nih.gov
- Society for Mucopolysaccharide Diseases
MPS House
Repton Place
White Lion Road
Amersham
Buckinghamshire None HP7 9LP.
Phone #: 004-401-494 434156
800 #: --
e-mail: mps@mpssociety.co.uk
Home page: http://www.mpssociety.co.uk
- Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy None 91300
Phone #: 01 -69 -75 40 30
800 #: --
e-mail: accueil@vml-asso.org
Home page: http://www.vml-asso.org
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