Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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. (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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