The enzyme deficient in Lesch-Nyhan syndrome is
**Core Concept**
Lesch-Nyhan syndrome is a genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT), which plays a crucial role in purine metabolism. This deficiency leads to an accumulation of uric acid and its toxic metabolites.
**Why the Correct Answer is Right**
The HGPRT enzyme is responsible for converting hypoxanthine and guanine into their corresponding monophosphate derivatives, thereby participating in the purine salvage pathway. In Lesch-Nyhan syndrome, the deficiency of HGPRT disrupts this pathway, resulting in an overproduction of uric acid and subsequent development of symptoms such as severe gout, kidney stones, and neurological abnormalities. The enzyme's deficiency also leads to the accumulation of uric acid's toxic metabolites, which cause the characteristic self-mutilating behavior seen in patients with Lesch-Nyhan syndrome.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is incorrect because it does not specify the correct enzyme involved in Lesch-Nyhan syndrome. While it may seem plausible, it lacks the specificity required to accurately diagnose the condition.
* **Option B:** This option is incorrect because it is a different enzyme involved in a different metabolic pathway. Although it may be relevant to other disorders, it is not the enzyme deficient in Lesch-Nyhan syndrome.
* **Option C:** This option is incorrect because it is a different enzyme involved in purine metabolism, but not the one specifically deficient in Lesch-Nyhan syndrome.
**Clinical Pearl / High-Yield Fact**
Lesch-Nyhan syndrome is an X-linked recessive disorder, meaning it predominantly affects males due to their single X chromosome. Females can be carriers of the mutated gene, but they are usually asymptomatic or exhibit milder symptoms.
**Correct Answer:** C.