Which disorder is X-linked recessive and features self-mutilation, intellectual disability, spasticity, seizures, and a mutation in the HPRT1 gene, with treatment including allopurinol?

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Multiple Choice

Which disorder is X-linked recessive and features self-mutilation, intellectual disability, spasticity, seizures, and a mutation in the HPRT1 gene, with treatment including allopurinol?

This question tests an X-linked recessive metabolic disorder caused by a mutation in HPRT1. Loss of hypoxanthine-guanine phosphoribosyltransferase disrupts purine salvage, leading to high uric acid levels and a range of neurological problems. The hallmark behavioral feature is self-mutilation, often with intellectual disability, along with motor abnormalities such as spasticity and seizures. Allopurinol helps by lowering uric acid production, reducing gout and kidney stone risk, but it does not fix the neurologic symptoms. Blepharospasm is a focal eyelid dystonia without the HPRT1 mutation or self-injurious behavior; dopa-responsive dystonia involves GCH1 deficiency and typically improves with levodopa; Sydenham chorea is a post-streptococcal movement disorder not tied to HPRT1 or hyperuricemia.

This question tests an X-linked recessive metabolic disorder caused by a mutation in HPRT1. Loss of hypoxanthine-guanine phosphoribosyltransferase disrupts purine salvage, leading to high uric acid levels and a range of neurological problems. The hallmark behavioral feature is self-mutilation, often with intellectual disability, along with motor abnormalities such as spasticity and seizures. Allopurinol helps by lowering uric acid production, reducing gout and kidney stone risk, but it does not fix the neurologic symptoms. Blepharospasm is a focal eyelid dystonia without the HPRT1 mutation or self-injurious behavior; dopa-responsive dystonia involves GCH1 deficiency and typically improves with levodopa; Sydenham chorea is a post-streptococcal movement disorder not tied to HPRT1 or hyperuricemia.

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