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?
Ans. C. Hypoxanthine Guanine Phosphoribosyl transferaseIdentifying features* Seen only in males* Compulsive self mutilation* Intellectual siability* Hyperuricemia
PRPP Synthetase
Xanthine oxidase
Hypoxanthine Guanine Phosphoribosyl transferase
Glucose 6 Phosphatase
Molecular Genetics