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MBBS QUESTION #10363
Question 1
Lesch-Nyhan syndrome, characterized by hyperuricemia, self-mutilating behavior, and choreoathetosis, results from deficiency of which purine salvage pathway enzyme?
  • Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)✔️
  • Adenosine deaminase
  • Xanthine oxidase
  • Adenine phosphoribosyltransferase (APRT)
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.