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Biochemistry Molecular Genetics 835057bc

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
High-Yield Explanation
Ans. C. Hypoxanthine Guanine Phosphoribosyl transferaseIdentifying features* Seen only in males* Compulsive self mutilation* Intellectual siability* Hyperuricemia

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