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QUESTION #10363
Question 1
Lesch-Nyhan syndrome, characterized by hyperuricemia, self-mutilating behavior, and choreoathetosis, results from deficiency of which purine salvage pathway enzyme?
Correct Answer Explanation
HGPRT deficiency prevents salvage (recycling) of hypoxanthine and guanine back into nucleotides, forcing these purine bases toward degradation to uric acid (causing severe hyperuricemia/gout) while simultaneously depriving cells, particularly in the basal ganglia, of adequate purine nucleotide salvage — contributing to the characteristic neurobehavioral features including self-injurious behavior.
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