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Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency (Lesch-Nyhan syndrome)

User Guthrie
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Final Answer:

Hypoxanthine-guanine phosphoribosyltransferase (HGPRT) deficiency, known as Lesch-Nyhan syndrome, is a rare genetic disorder characterized by neurological abnormalities, self-mutilation, and elevated uric acid levels. It results from a mutation in the HPRT1 gene, leading to impaired purine metabolism.

Step-by-step explanation:

Lesch-Nyhan syndrome is an X-linked recessive disorder caused by a deficiency of the enzyme HGPRT, crucial for recycling purines. Without functional HGPRT, there is an accumulation of uric acid, leading to hyperuricemia and subsequent gout. Neurologically, affected individuals exhibit severe motor dysfunction, spasticity, and self-injurious behaviors, such as biting their own fingers.

The HPRT1 gene mutation results in the inability to salvage and recycle purines, leading to their excessive degradation and increased uric acid production. The neurological symptoms are thought to be related to the impact of disrupted purine metabolism on the central nervous system.

Management of Lesch-Nyhan syndrome primarily focuses on symptomatic treatment, as there is no cure for the underlying genetic defect. Behavioral interventions and medications may help address self-mutilating behaviors, while medications targeting uric acid levels can mitigate the risk of gout. A multidisciplinary approach involving genetic counseling and supportive care is crucial for individuals with this rare and complex disorder.

User Seokhoonlee
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