Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The disease is caused by a complete deficiency of the enzyme hypoxanthine phosphoribosyltransferase 1 encoded by the gene HPRT. The clinical picture is characterized by mental retardation, spastic cerebral palsy, choreoathetosis, uric acid urinary stones, and self-destructive biting of fingers and lips.
Uric acid nephropathy
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Hyperuricemic nephropathy
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Kelley-Seegmiller syndrome
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Lesch-Nyhan syndrome
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HPRT1
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Renal Hypouricemia
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