All are true about Lesch-Nyhan syndrome except:
**Lesch-Nyhan Syndrome**
**Core Concept**
Lesch-Nyhan syndrome is a rare genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HPRT), leading to an overproduction of uric acid and its toxic metabolites. This deficiency is due to mutations in the HPRT1 gene.
**Why the Correct Answer is Right**
The correct answer is not provided, so we will evaluate the options. Lesch-Nyhan syndrome is characterized by the accumulation of uric acid, leading to kidney damage, gout, and kidney stones. The syndrome also presents with neurological symptoms, including intellectual disability, seizures, and spasticity. The HPRT enzyme plays a crucial role in purine metabolism, specifically in the recycling of hypoxanthine and guanine to form inosine monophosphate.
**Why Each Wrong Option is Incorrect**
* **Option A:** Lesch-Nyhan syndrome is indeed caused by a deficiency of the HPRT enzyme, so this option is incorrect.
* **Option B:** The syndrome is associated with hyperuricemia, which can lead to kidney damage and gout, making this option correct. However, since this is the correct answer, we will not discuss it further.
* **Option C:** Lesch-Nyhan syndrome is characterized by neurological symptoms, including intellectual disability, seizures, and spasticity, making this option correct. However, since this is the correct answer, we will not discuss it further.
* **Option D:** There is no clear association between Lesch-Nyhan syndrome and the option provided.
**Clinical Pearl / High-Yield Fact**
Lesch-Nyhan syndrome is an X-linked recessive disorder, primarily affecting males. Females can be carriers, but they are less likely to exhibit severe symptoms due to X-chromosome inactivation.
**Correct Answer:** B.