A 7-year-old boy with compulsive self mutilation, intellectual disability. He is always strapped to bed Serum uric acid level is elevated. What is the enzyme deficiency in this disorder?: (A) PRPP Synthetase, (B) Xanthine oxidase, (C) Hypoxanthine Guanine Phosphoribosyl transferase, (D) Glucose 6 Phosphatase
Answer is C. Ans. C. Hypoxanthine Guanine Phosphoribosyl transferaseIdentifying features* Seen only in males* Compulsive self mutilation* Intellectual siability* Hyperuricemia