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What is True about Lesch Nyhan Syndrome: and explain in detail?
Ans. (c) Uric acid stones are frequently formedRef: Harper's Biochemistry, 30th ed. pg. 354-55, 26th ed.pg. 300LESCH-NYHAN SYNDROME* It is a X- linked recessive disorder which is characterized by:# An overproduction hyperuricemia# Frequent episodes of uric acid lithiasis# Self-mutilative behavior,# Mental retardation.* It reflects a defect in hypoxanthine-guanine phospho- ribosyl transferase, an enzyme of purine salvage. The accompanying rise in intracellular PRPP results in purine overproduction. Mutations that decrease or abolish hypoxanthine-guanine phosphoribosyl transferase activity include deletions, frameshift mutations, base substitutions, and aberrant mRNA splicing.