## **Core Concept**
The question tests knowledge of X-linked genetic disorders that affect purine metabolism, leading to conditions such as gouty arthritis and urolithiasis (kidney stones). The disorder in question is related to a deficiency in an enzyme crucial for purine metabolism.
## **Why the Correct Answer is Right**
The correct answer, **D.**, corresponds to **Lesch-Nyhan syndrome** or more accurately in this context, **Kelley-Seegmiller syndrome** (also known as **HGPRT-related gout** or **partial HGPRT deficiency**). This condition results from a partial deficiency of the enzyme **hypoxanthine-guanine phosphoribosyltransferase (HGPRT)**, which is crucial for the recycling of purines. The deficiency leads to overproduction of uric acid, manifesting as **gouty arthritis** and **urolithiasis** due to the low solubility of uric acid in urine.
## **Why Each Wrong Option is Incorrect**
- **Option A:** This option does not correspond to the correct condition related to the symptoms described.
- **Option B:** This could potentially refer to another metabolic disorder but does not accurately describe the condition associated with the symptoms provided.
- **Option C:** Similarly, this option does not match the description of a condition leading to urolithiasis with gouty arthritis.
## **Clinical Pearl / High-Yield Fact**
A key point to remember is that **Lesch-Nyhan syndrome** (complete deficiency of HGPRT) presents with more severe symptoms, including intellectual disability, self-mutilation, and gout, whereas **Kelley-Seegmiller syndrome** (partial deficiency) primarily presents with gout and renal manifestations. The question seems to point towards a condition with prominent **gouty arthritis and urolithiasis**, aligning with partial HGPRT deficiency.
## **Correct Answer:** **D.**
Free Medical MCQs Β· NEET PG Β· USMLE Β· AIIMS
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