Which of the following genetic disorders often leads to progressive neurodegeneration in infancy or early childhood due to enzyme deficiency in the central nervous system?
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Correct answer: Tay–Sachs disease
Tay–Sachs disease is a fatal autosomal recessive disorder caused by deficiency of hexosaminidase A; accumulation of GM2 ganglioside leads to progressive neuronal destruction and neurodegeneration early in life.
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