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: info@climb.org.uk
    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: lori.mps@rogers.com
    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: info@hideandseek.org
    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: pres@mannosidosis.org
    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: nddic@info.niddk.nih.gov
    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: mps@mpssociety.co.uk
    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: info@thearc.org
    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: accueil@vml-asso.org
    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