Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders
The disease is caused by a partial deficiency of the enzyme hypoxanthine phosphoribosyltransferase 1 encoded by the gene HPRT, which results in uric acid accumulation. The clinical picture is characterized by gout and uric acid kidney stones.
Uric acid nephropathy
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Hyperuricemic nephropathy
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Kelley-Seegmiller syndrome
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HPRT1
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Lesch-Nyhan syndrome
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Renal Hypouricemia
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| 1. |
Kelley WN et al. (1967) A specific enzyme defect in gout associated with overproduction of uric acid. 
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| 2. |
McDonald JA et al. (1971) Lesch-Nyhan syndrome: altered kinetic properties of mutant enzyme.
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| 3. |
Yü TF et al. (1972) Rarity of X-linked partial hypoxanthine-guanine phosphoribosyltransferase deficiency in a large gouty population.
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| 4. |
Zoref-Shani E et al. (2000) Kelley-Seegmiller syndrome due to a unique variant of hypoxanthine-guanine phosphoribosyltransferase: reduced affinity for 5-phosphoribosyl-1-pyrophosphate manifested only at low, physiological substrate concentrations.
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| 5. |
Srivastava T et al. (2002) Childhood hyperuricemia and acute renal failure resulting from a missense mutation in the HPRT gene.
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| 6. |
Andrés A et al. (1987) Partial deficit of hypoxanthine guanine phosphoribosyl transferase presenting as acute renal failure.
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| 7. |
Orphanet article Orphanet ID 79233
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| 8. |
OMIM.ORG article Omim 300323
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| 9. |
Wikipedia article Wikipedia EN (Lesch–Nyhan_syndrome)
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