A male child with self-mutilation, neurological dysfunction, hyperuricemia, and dystonia. A deficiency of which enzyme is responsible?
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A 28-year-old man presents with excessive thirst and passing large volumes of urine (7-8 L daily) for three months. Investigation reveals serum sodium of 150 mEq/L and increased serum osmolarity, while urine osmolarity is 210. Urine remains diluted after water restriction, but after giving a CNS analog like desmopressin, urine osmolarity increases significantly. What is the diagnosis?
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