Tay-Sachs Disease

Paper Summary:

This is a detail oriented clinical presentation of Tay-Sachs disease that focuses on the disease histology, clinical presentation, laboratory findings and finally prognosis. There is an introduction that goes into the disease itself from a historical standpoint and from an epidemiologic standpoint. The basic disease classification is discussed as are the disease specifics, including the four categories.

From the Paper:

"Tay Sachs Disease is a Hex A deficiency genetic disorder that predominantly affects jewish individuals of eastern european extraction (Ashkenzai), French-Canadians and those of Irish ancestry; although these later two groups are not as strongly focused on in the literature. While Frye tells us that the disorder was described over 100 years ago, the gene responsible for Tay-Sachs disease enzyme deficiency was identified in 1969. Tay-Sachs is an autosomal recessive, lysosomal storage disorder grouped within the G[M2] ganglioside disorders. This paper will provide four profiles of the disease: histology, clinical picture, laboratory findings/results and finally will offer a prognosis. Operationally, we need to look to Scheinfeld to understand the disorder. According to Scheinfeld, a lysosome is a "subcellular organelle responsible for the physiologic turnover of cell constituents containing catabolic enzymes requiring a low optimum pH..."

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