Important 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.
cherry red spot and myoclonus syndrome
glycoprotein neuraminidase, deficiency of
lipomucopolysaccharidosis type I
mucolopidosis type I
sialidosis type I
sialidosis type II
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.
CLIMB (Children Living with Inherited Metabolic Diseases) Climb Building 176 Nantwich Road Crewe, CW2 6BG United Kingdom Tel: 4408452412173 Fax: 4408452412174 Email: firstname.lastname@example.org Internet: http://www.CLIMB.org.uk
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Society for Mucopolysaccharide Diseases MPS House Repton Place White Lion Road Amersham Buckinghamshire, HP7 9LP United Kingdom Tel: 08453899901 Fax: 08453899902 Email: email@example.com Internet: http://www.mpssociety.co.uk
Canadian Society for Mucopolysaccharide and Related Diseases, Inc. PO Box 30034 RPO Parkgate North Vancouver British Columbia, V7H 2Y8 Canada Tel: 6049245130 Fax: 6049245131 Tel: 8006671846 Email: firstname.lastname@example.org Internet: http://www.mpssociety.ca
International Advocate For Glycoprotein Storage Diseases 3921 Country Club Drive Lakewood, CA 90712 USA Tel: (410)628-9991 Email: email@example.com Internet: http://www.ismrd.org
Genetic and Rare Diseases (GARD) Information Center PO Box 8126 Gaithersburg, MD 20898-8126 Tel: (301)251-4925 Fax: (301)251-4911 Tel: (888)205-2311 TDD: (888)205-3223 Internet: http://rarediseases.info.nih.gov/GARD/
Hide & Seek Foundation for Lysosomal Disease Research 6475 East Pacific Coast Highway Suite 466 Long Beach, CA 90803 Tel: (877)621-1122 Fax: (866)215-8850 Email: firstname.lastname@example.org Internet: http://www.hideandseek.org
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