Question

Which enzyme deficiency causesLesch–Nyhan syndrome ?

• A. Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)
• B. Xanthine oxidase
• C. Adenine phosphoribosyltransferase (APRT)
• D. AMP deaminase

Answer 1

The Correct Option is A

Lesch–Nyhan syndrome is an X-linked recessive disorder caused by a deficiency in the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme plays a critical role in the purine salvage pathway, which recycles purines to form nucleotides. The deficiency leads to the accumulation of uric acid, resulting in the characteristic symptoms of hyperuricemia, neurological dysfunction, and self-mutilation behaviors. Therefore, the enzyme deficiency responsible for Lesch–Nyhan syndrome is:

• Hypoxanthine-guanine phosphoribosyltransferase (HGPRT)