Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Gout PRPS-related

PRPS1 superactivity is an x-linked recessive disorder caused by mutations of the PRPS1 gene and characterized by uric acid overproduction. Conclusively gout devlops in these patients. Neurological symptoms are not typical of the mild form.

Systematic

Disorders of urate metabolism
Gout PRPS-related
PRPS1
Hyperuricemia
Hypouricemia
Phosphoribosylpyrophosphate synthetase superactivity

References:

1.

Moran R et al. (2012) Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I.

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2.

Zoref E et al. (1975) Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.

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3.

Becker MA et al. (1986) Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate.

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4.

Becker MA et al. (1980) Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions.

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5.

Becker MA et al. (1995) The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity.

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6.

Roessler BJ et al. (1993) Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene.

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7.

Zoref E et al. (1976) Metabolic cooperation between human fibroblasts with normal and with mutant superactive phosphoribosylpyrophosphate synthetase.

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8.

Zoref E et al. (1977) Evidence for X-linkage of phosphoribosylpyrophosphate synthetase in man. Studies with cultured fibroblasts from a gouty family with mutant feedback-resistant enzyme.

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9.

Yen RC et al. (1978) Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase.

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10.

Christen HJ et al. (1992) Distinct neurological syndrome in two brothers with hyperuricaemia.

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11.

Becker MA et al. (1988) Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness.

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12.

Becker MA et al. (1986) Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme.

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13.

Becker MA et al. (1973) Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis.

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14.

Sperling O et al. (1972) Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout.

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15.

Becker MA et al. (1973) Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity.

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16.

Sperling O et al. (1973) Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties.

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17.

de Vries A et al. (1973) Familial gouty malignant uric acid lithiasis due to mutant phosphoribosylpyrophosphate synthetase.

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18.

Becker MA et al. (1973) Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity.

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19.

Rosenberg AL et al. (1970) Hyperuricemia and neurologic deficits. A family study.

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20.

Nyhan WL et al. (1969) A new disorder of purine metabolism with behavioral manifestations.

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21.

Simmonds HA et al. (1982) An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities.

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22.

Takeuchi F et al. (1981) The mode of genetic transmission of gouty family with increased phosphoribosylpyrophosphate synthetase activity.

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23.

Becker MA et al. (1996) Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase.

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24.

Orphanet article

Orphanet ID 411536 [^]
25.

OMIM.ORG article

Omim 300661 [^]
Update: April 29, 2019