The enzyme deficient in Lysch Nyhan syndrome is:-: (A) Adenosine Deaminase, (B) PRPP synthetase, (C) HGPase, (D) Xanthine oxidase
Answer is C. HGPase (Hypoxanthine guanine phosphoribosyl transferase) deficiency: Causes Lesch-Nyhan syndrome. | synthesis of purine nucleotides |utilization of purines (hypoxanthine and guanine) by salvage pathway-accumulation of PRPP (Neurotoxic component)- Self mutilation Defect in salvage pathway- | IMP and CMP - impairment feedback regulation of their production