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Tay-Sachs Disease

enzyme adult deficiency system

Tay-Sachs disease is a rare, inherited degenerative disorder of the nervous system associated with deficiency of the enzyme[.beta]-hexosaminidase A (HEXA). When the condition is present, a particular lipid, called a ganglioside, accumulates in the cells of the central nervous system. Functional and anatomical abnormalities result, and are clinically manifested by motor disturbances, seizures, speech problems, psychiatric illness, and dementia. Age of onset and clinical severity depend upon the magnitude of the enzyme deficiency. The classic or infantile form is rapidly progressive, leading to death within the first few years of life. Adult onset cases are milder and the disease may not be life threatening. Certain ethnic groups, such as those of Ashkenazi Jewish, French Canadian, or Turkish origin, are more commonly affected. Research is directed toward understanding the biological activity of gangliosides and the effects of their excessive accumulation. As there is no cure, intervention involves identifying those who carry the genetic defect in order to provide reproductive counseling to them.

See also: GENOTYPE

Bibliography

Gravel, Roy A., Joe T. R. Clarke, Michael M. Kaback, Don Mahuran, Conrad Sandhoff, and Kinuko Suzuki. "The GM2Gangliosidoses." In Charles R. Scriver, Arthur L. Beaudet, William S. Sly, and David Vale eds., The Metabolic and Molecular Basis of Inherited Disease, 7th edition. New York: McGraw-Hill, 1995.

MacQueen, Glenda M., Patricia I. Rosebush, and Michael F. Mazurek. "Neuropsychiatric Aspects of the Adult Variant of Tay-Sachs Disease." The Journal of Neuropsychiatry and Clinical Neurosciences 10 (1998):10-19.

Patricia I. Rosebush

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