Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Phosphoribosylpyrophosphate synthetase superactivity

PRPS1 superactivity is an x-linked recessive disorder caused by mutations of the PRPS1 gene and characterized by uric acid overproduction. Conclusively clinical feature are gout, uric acid urolithiasis, and secondary renal insufficiency. Neurological symptoms include metal retardation, ataxia, hypotonia, and sensorineural hearing loss. Also permanent neonatal diabetes is reported.

Systematic

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

References:

1.

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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2.

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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3.

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

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4.

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

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5.

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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6.

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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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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Update: Sept. 26, 2018