NEET PG Medical – 2018 – Question – 23
Lesch–Nyhan syndrome is caused by deficiency of which enzyme?
a) Orotate Phosphoribosyltransferase
b) Uracil phosphoribosyltransferase
c) Quinolinate Phosphoribosyltransferase
d) Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
Show Answer
Correct Answer – D
Answer: D. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
- The condition is called ksch-Nyhan slmdrome, in which there is complete deficiency of HGPRT.
- HGPRT deficiency causes decreased utilization of PRPP in salvage pathway.
- This results in increased production of purine nucleotide from PRPP via de-novo pathway.
- The disease is characterized by hyperuricemia, gouty arthritis, urinary stones, neurological symptoms.
