Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

PRPS-bedingte Gicht

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. Neurologische Auffälligkeiten sind bei der milden Form nicht typisch.

Gliederung

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

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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