Which of the follow ing is the disorder of purine –
**Core Concept**
The question is testing knowledge of a disorder related to purine metabolism. Purine is a heterocyclic aromatic organic compound that forms the backbone of adenine and guanine, two of the four nucleobases in the nucleic acids DNA and RNA. Disorders of purine metabolism can lead to abnormal levels of purines, which can cause various health problems.
**Why the Correct Answer is Right**
The correct disorder is Lesch-Nyhan syndrome. This is a rare genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). HGPRT is essential for the recycling of purines in the body. A deficiency of this enzyme leads to the accumulation of uric acid and other purines, causing symptoms such as excessive uric acid production, kidney stones, and neurological problems. The mutation in the HPRT1 gene, which codes for HGPRT, is inherited in an X-linked recessive pattern.
**Why Each Wrong Option is Incorrect**
* **Option A:** This option is not relevant to purine metabolism disorders.
* **Option B:** This option is incorrect because it is related to a different metabolic pathway.
* **Option C:** This option is not a disorder of purine metabolism.
**Clinical Pearl / High-Yield Fact**
Lesch-Nyhan syndrome is a classic example of a disorder caused by a deficiency of a purine metabolism enzyme. It is essential to recognize the symptoms and the underlying genetic cause of this disorder to provide appropriate treatment.
**Correct Answer: C. Lesch-Nyhan syndrome**