USMLE Forums - View Single Post - Sand Like Uric Acid Crystals in the Diaper!
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Old 12-13-2009
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1. It's Lesch–Nyhan syndrome (x-linked recessive)
2. Mutation in the HPRT gene
3. Deficiency of Hypoxanthine- guanine phosphoribosyltransferase (HGPRT) enzyme

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