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Old 07-09-2010
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Biochemistry Lesch Nyhan Syndrome and Allopurinol

A 1-year-old male has a normal birth and infantile history except for delay in sitting up, crawling, and standing (delayed motor milestones). He begins the unusual habit of chewing on his fingers and lips, and in one instance bites through the lip and leaves a large wound. His physician documents an elevated serum uric acid and suspects Lesch-Nyhan syndrome . In considering potential therapy, the physician reads that purines are overproduced in gout and Lesch-Nyhan syndrome, causing hyperuricemia, yet the hypoxanthine analogue allopurinol is only effective in gout. Allopurinol does not treat the neurologic symptoms of Lesch-Nyhan syndrome because it does not do which the following?

A. Decrease de novo purine synthesis
B. Decrease de novo pyrimidine synthesis
C. Diminish urate synthesis
D. Increase phosphoribosylpyrophosphate (PRPP) levels
E. Inhibit xanthine oxidase
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