Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Phosphoribosylpyrophosphat-Synthetase-Überaktivität

Die PRPS1-Überaktivität ist eine x-chromosomalrezessive Erkrankung, die durch eine Überproduktion an Harnsäure charakterosiert ist und durch funktionssteigernde Mutationen im PRPS1-Gen ausgelöst wird. Infolge dessen kommt es zur Entwicklung von Gicht und Uratnephropathie. Neurologische Auffälligkeiten sind metale Retardierung, Hypotonie und Ataxie sowie eine Innenohrschwerhörigkeit. Von der Ausbildung eines permanenten neonatalen Diabetes wurde auch berichtet.

Gliederung

Störungen des Harnsäurestoffwechsels
Hyperuricämie
Hypouricämie
PRPS-bedingte Gicht
Phosphoribosylpyrophosphat-Synthetase-Überaktivität
PRPS1

Referenzen:

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

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3.

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

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4.

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

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5.

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

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6.

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

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7.

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

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8.

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

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9.

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

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10.

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

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11.

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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12.

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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13.

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

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14.

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

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15.

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

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16.

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

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17.

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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18.

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

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19.

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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20.

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

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21.

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

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22.

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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23.

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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24.

OMIM.ORG article

Omim 300661 external link
25.

Orphanet article

Orphanet ID 3222 external link
Update: 14. August 2020
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