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Unformatted text preview: by the HEX-B gene. Mutations in the HEX-B gene cause Sandhoff disease. How would you expect the symptoms of Sandhoff disease to compare with those of Tay-Sachs disease? Give a reason for your answer. (2 points) 4) Briefly describe why Tay-Sachs disease is classified as: (3 points) a) An inborn error of metabolism. b) A lysosomal storage disease. Impairment of the alpha subunit of HEXA results in the absence of enzyme activity. HEXA is involved in the cleaving the terminal N-acetylgalactoamine or N- acetylglucosamine from glycoconjugates. HEXA is able to transport GM2 ganglioside to the lysosome and cleave its glycosidic bond. A deficit of this enzyme results in the accumulation of GM2 ganglioside in the lysosomes of neurons leading to progressive neuronal degeneration and death at an early age (usually by 2-4 years)....
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This note was uploaded on 04/13/2008 for the course NURSING 96:116 taught by Professor Schutte during the Spring '08 term at University of Iowa.
- Spring '08