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