Neuraminidase Deficiency Health Article

Prognosis

Individuals with sialidosis type I may have a nearnormal life expectancy. However, the myoclonus may be progressively debilitating and myoclonic seizures can be fatal. Children with neonatal-onset sialidosis type II usually are stillborn or die at a young age. Those with infantile-onset sialidosis type II rarely survive through adolescence.

BOOKS

Saito, M., and R. K. Yu. "Biochemistry and Function of Sialidases." Biology of the Sialic Acids, edited by A. Rosenberg. New York: Plenum Press, 1995, pp. 7-67.

Thomas, G. H., and A. L. Beaudet. "Disorders of Glycoprotein Degradation and Structure: Alpha-mannosidosis, Beta-mannosidosis, Fucosidosis, Sialidosis, Aspartylglucosaminuria and Carbohydrate-deficient Glycoprotein Syndrome." The Metabolic and Molecular Bases of Inherited Disease, edited by C. R. Scriver, A. L. Beaudet, W. S. Sly, and D. Valle. New York: McGraw Hill, Inc., 1995, pp. 2529-61.

PERIODICALS

Bonten, E. J., et al. "Novel Mutations in Lysosomal Neuraminidase Identify Functional Domains and Determine Clinical Severity in Sialidosis." Human Molecular Genetics 9, 18 (November 1, 2000): 2715-25.

Lukong, K. E., et al. "Characterization of the Sialidase Molecular Defects in Sialidosis Patients Suggests the Structural Organization of the Lysosomal Multienzyme Complex." Human Molecular Genetics 9, 7 (April 12, 2000): 1075-85.

ORGANIZATIONS

Canadian Society for Mucopolysaccharide and Related Diseases. PO Box 64714, Unionville, ONT L3R OM9. Canada (905) 479-8701 or (800) 667-1846. <http://www.mpssociety.ca>.

International Society for Mannosidosis and Related Diseases. 3210 Batavia Ave., Baltimore, MD 21214. (410) 254-4903. info@mannosidosis.org. <http://www.mannosidosis.org>.

National MPS Society. 102 Aspen Dr., Downingtown, PA 19335. (610) 942-0100. Fax: (610) 942-7188. info@mpssociety.org. <http://www.mpssociety.org>.

WEBSITES

Murphy, Paul. "Lysosomal Storage Diseases: A Family Sourcebook." Human Genetic Disease: A Layman's Approach. <http://mcrcr2.med.nyu.edu/murphp01/lysosome/bill1a.htm>.

Margaret Alic, PhD