Lesch - Nyhan Syndrome - associated with: (A) Purine necleoside phosphorylase deficiency, (B) Adenosine deaminase deficiency, (C) Hypoxanthine - guanine phosphoribosyl transferase defect, (D) Xanthine oxidase deficiency
Answer is C. It is X-linked inherited disorder of purine metabolismDeficiency of HGPase, so the rate of salvage pathway is decreased resulting in the accumulation of PRPP and decreased level of inhibitory purine nucleotide Disease is characterized by self-mutilation, mental retardation excessive uric acid and nephrolithiasis Ref: DM Vasudevan, 7th edition, page no: 568