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?
Correct Answer: Hypoxanthine Guanine Phosphoribosyl transferase
Description: Ans. C. Hypoxanthine Guanine Phosphoribosyl transferaseIdentifying features* Seen only in males* Compulsive self mutilation* Intellectual siability* Hyperuricemia
Category:
Biochemistry
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