True about Lesch Nyhan Syndrome:
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.
Patient have normal intellectual capacity
Pyrimidine overproduction is the cause
Uric acid stones are frequently formed
X- Linked dominant
Proteins and Amino Acids