Sialidosis / Disease

Diseases & Conditions

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Sialidosis

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

CLIMB (Children Living with Inherited Metabolic Diseases)
Climb Building
Crewe Intl CW2 6BG
Phone #: +44- 87-0 7700 325
800 #: --
e-mail: [email protected]
Home page: http://www.CLIMB.org.uk
Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 64714
Ontario Intl L3R OM9
Phone #: 905--47-9-8701
800 #: 800--66-7-1846
e-mail: [email protected]
Home page: http://www.mpssociety.ca
Hide & Seek Foundation for Lysosomal Disease Research
4123 Lankershim Blvd.
North Hollywood CA 91602-2828
Phone #: 818-762-8621
800 #: N/A
e-mail: [email protected]
Home page: http://www.hideandseek.org
International Society for Mannosidosis & Related Diseases, Inc.
1030 Saxon Hill Drive
Cockeysville MD 21030
Phone #: 410-628-9991
800 #: N/A
e-mail: [email protected]
Home page: http://www/mannosidosis.org
NIH/National Digestive Diseases Information Clearinghouse
2 Information Way
Bethesda MD 20892-3570
Phone #: 301-654-3810
800 #: 800-891-5389
e-mail: [email protected]
Home page: http://www.niddk.nih.gov
Society for Mucopolysaccharide Diseases
46 Woodside Road
Buckinghamshire None HP6 6AJ
Phone #: 004-401-494 434156
800 #: --
e-mail: [email protected]
Home page: http://www.mpssociety.co.uk
The Arc (a national organization on mental retardation)
1010 Wayne Ave
Silver Spring MD 20910
Phone #: 301-565-3842
800 #: 800-433-5255
e-mail: inf[email protected]
Home page: http://www.thearc.org/
Vaincre Les Maladies Lysosomales
2 ter avenue de Fance
Massy None 91300
Phone #: 01 -69 -75 40 30
800 #: --
e-mail: [email protected]
Home page: http://www.vml-asso.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