Pgi Chandigarh – 83933

Hyperuricemia occurs due to?

A. HGPRT deficiency

B. UMP synthase deficiency

C. PRPP deficiency

D. Ornithine transcarbamylase deficiency

E. Glucose-6-phosphate deficiency

Correct Answer » A:E Explanation

Ans. A & E
HGpRT deficiency causes Lesch-Nyhan syndrome, characterized by hyperuricemia, gouty arthritis, urinary stones.
UMP synthase deficiency results in Orotic aciduria.
PRPP overactivity (not deficiency) results in hyperuricemia.
Glucose-6-phosphatase deficiency leads to accumulated glucose-6-phosphate which results in increased synthesis of PRPP increased synthesis of purine nucleotides and hyperuricemia.