Lesch-Nyhan syndrome results from HGPRT deficiency. The characteristic neurological finding that distinguishes it from simple gout is:
- A Self-mutilating behaviour, choreoathetosis, and intellectual disability ✓
- B Progressive ataxia and cerebellar signs
- C Peripheral neuropathy and demyelination
- D Seizures and microcephaly without uric acid elevation
Correct answer: A. Self-mutilating behaviour, choreoathetosis, and intellectual disability
Explanation
HGPRT (hypoxanthine-guanine phosphoribosyltransferase) deficiency causes complete loss of purine salvage, leading to massive uric acid overproduction with gout plus characteristic neurological features: self-mutilating behaviour (lip/finger biting), choreoathetosis, spasticity, and intellectual disability due to dopaminergic pathway dysfunction in the basal ganglia. Cerebellar ataxia and peripheral neuropathy are not features. Seizures are not the hallmark.
Reference: Harper's Illustrated Biochemistry, 32nd ed.
High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP
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