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Kelley-Seegmiller syndrome

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.

Systematic

Uric acid nephropathy
Hyperuricemic nephropathy
Kelley-Seegmiller syndrome
HPRT1
Lesch-Nyhan syndrome
Renal Hypouricemia

References:

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 external link
8.

OMIM.ORG article

Omim 300323 external link
9.

Wikipedia article

Wikipedia EN (Lesch–Nyhan_syndrome) external link
Update: Aug. 14, 2020
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