The enzyme deficient in Lesch Nyhan syndrome is:
Correct Answer: HGPRTase
Description: Ref. Guyton. 13th edition. Page. 879
Lesch-Nyhan syndrome results from a defect in HGPRT, an enzyme involved in the purine salvage pathway.
HGPRT catalyzes the conversion of the free base (hypoxanthine of guanine) to a nucleotide (IMP or GMP).
HGPRT is not required for de novo purine synthesis, or urate synthesis, or for either the de novo or salvage pathways of pyrimidine metabolism.
Features
Spastic cerebral palsy
Self-mutilation (hands, lips)
Hyperuricemia and gout
Early death
X-linked (recessive)
Category:
Unknown
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