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It is possible that the main title of the report Sialidosis 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.
Sialidosis, also known as mucolipidosis type I, is a rare inherited metabolic disorder characterized by a deficiency of the enzyme neuraminidase (sometimes referred to as sialidase). Deficiency of neuraminidase results in the abnormal accumulation of toxic materials in the body. Sialidosis is divided into two types (i.e., type I and type II). Sialidosis type I usually becomes apparent during the second decade of life with the development of sudden involuntary muscle contractions (myoclonus), distinctive red spots (cherry-red macules) in the eyes, and sometimes additional neurological findings. Sialidosis type II is usually more severe than sialidosis type I. Type II often begins during infancy or later during childhood and is characterized by cherry-red macules, mildly coarse facial features, skeletal malformations and mild cognitive impairment. Sialidosis is inherited as an autosomal recessive trait.
Sialidosis belongs to a group of diseases known as the lysosomal storage disorders (LSDs). Lysosomes are particles bound in membranes within cells that function as the primary digestive units within cells. Enzymes within lysosomes break down or digest particular nutrients, such as complex molecules composed of a sugar attached to a protein (glycoproteins). In sialidosis patients, low levels or inactivity of the neuraminidase enzyme leads to the abnormal accumulation these compounds in the cells with unwanted consequences. Sialidosis is also classified as one of the mucolipidoses, a subgroup of the LSDs.
Children Living with Inherited Metabolic Diseases (CLIMB)
176 Nantwich Road
Crewe, Intl CW2 6BG
Tel: 0845 241 2174
Tel: 800 652 3181
Vaincre Les Maladies Lysosomales
2 Ter Avenue
Tel: 01 69 75 40 30
Fax: 01 60 11 15 83
1660 L Street, NW, Suite 301
Washington, DC 20036
NIH/National Institute of Diabetes, Digestive & Kidney Diseases
Office of Communications & Public Liaison
Bldg 31, Rm 9A06
31 Center Drive, MSC 2560
Bethesda, MD 20892-2560
Society for Mucopolysaccharide Diseases
White Lion Road
Buckinghamshire, HP7 9LP.
Tel: 004401494 434156
Fax: 004401494 434252
Canadian Society for Mucopolysaccharide and Related Diseases, Inc.
PO Box 30034
British Columbia, Intl V7H 2Y8
Tel: (604) 924-5130
Fax: (604) 924-5131
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
Hide & Seek Foundation for Lysosomal Disease Research
6475 East Pacific Coast Highway Suite 466
Long Beach, CA 90803
Hong Kong Mucopolysaccharidoses & Rare Genetic Diseases Mutual Aid Group
G/F Wang Lai House
Wang Tau Hom Estate
Fax: 852 2338 4820
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
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 email@example.com
Last Updated: 5/28/2010
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