Lesch nyhan syndrome due fo-
**Core Concept**
Lesch-Nyhan syndrome is a rare genetic disorder caused by a deficiency of the enzyme hypoxanthine-guanine phosphoribosyltransferase (HGPRT). This enzyme plays a crucial role in the purine metabolism pathway, specifically in the recycling of hypoxanthine and guanine into purine nucleotides.
**Why the Correct Answer is Right**
The deficiency of HGPRT leads to the accumulation of uric acid in the body, causing severe hyperuricemia. This results in the formation of kidney stones, gout, and renal failure. Additionally, the lack of HGPRT leads to the overproduction of uric acid in the brain, causing neurologic symptoms such as spasticity, dystonia, and mental retardation. The syndrome is inherited in an X-linked recessive pattern, affecting mostly males.
**Why Each Wrong Option is Incorrect**
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**Clinical Pearl / High-Yield Fact**
Lesch-Nyhan syndrome is often mistaken for other conditions that cause hyperuricemia, such as gout or kidney stones. However, the presence of neurologic symptoms and the characteristic "self-mutilating" behavior (e.g., biting of the lips or fingers) should raise suspicion for Lesch-Nyhan syndrome.
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