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.
Störungen des Harnsäurestoffwechsels | ||||
Hyperuricämie | ||||
Hypouricämie | ||||
PRPS-bedingte Gicht | ||||
PRPS1 | ||||
Phosphoribosylpyrophosphat-Synthetase-Überaktivität | ||||
2. |
Becker MA et al. (1996) Overexpression of the normal phosphoribosylpyrophosphate synthetase 1 isoform underlies catalytic superactivity of human phosphoribosylpyrophosphate synthetase. |
3. |
Takeuchi F et al. (1981) The mode of genetic transmission of gouty family with increased phosphoribosylpyrophosphate synthetase activity. |
4. |
Simmonds HA et al. (1982) An X-linked syndrome characterised by hyperuricaemia, deafness, and neurodevelopmental abnormalities. |
5. |
Nyhan WL et al. (1969) A new disorder of purine metabolism with behavioral manifestations. |
6. |
Rosenberg AL et al. (1970) Hyperuricemia and neurologic deficits. A family study. |
7. |
Becker MA et al. (1973) Gout with purine overproduction due to increased phosphoribosylpyrophosphate synthetase activity. |
8. |
de Vries A et al. (1973) Familial gouty malignant uric acid lithiasis due to mutant phosphoribosylpyrophosphate synthetase. |
9. |
Sperling O et al. (1973) Human erythrocyte phosphoribosylpyrophosphate synthetase mutationally altered in regulatory properties. |
10. |
Becker MA et al. (1973) Purine overproduction in man associated with increased phosphoribosylpyrophosphate synthetase activity. |
11. |
Sperling O et al. (1972) Accelerated erythrocyte 5-phosphoribosyl-1-pyrophosphate synthesis. A familial abnormality associated with excessive uric acid production and gout. |
12. |
Becker MA et al. (1973) Human phosphoribosylpyrophosphate synthetase: increased enzyme specific activity in a family with gout and excessive purine synthesis. |
13. |
Becker MA et al. (1986) Phosphoribosylpyrophosphate synthetase superactivity. A study of five patients with catalytic defects in the enzyme. |
14. |
Becker MA et al. (1988) Inherited superactivity of phosphoribosylpyrophosphate synthetase: association of uric acid overproduction and sensorineural deafness. |
15. |
Christen HJ et al. (1992) Distinct neurological syndrome in two brothers with hyperuricaemia. |
16. |
Yen RC et al. (1978) Evidence for X-linkage of human phosphoribosylpyrophosphate synthetase. |
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. |
18. |
Zoref E et al. (1976) Metabolic cooperation between human fibroblasts with normal and with mutant superactive phosphoribosylpyrophosphate synthetase. |
19. |
Roessler BJ et al. (1993) Human X-linked phosphoribosylpyrophosphate synthetase superactivity is associated with distinct point mutations in the PRPS1 gene. |
20. |
Becker MA et al. (1995) The genetic and functional basis of purine nucleotide feedback-resistant phosphoribosylpyrophosphate synthetase superactivity. |
21. |
Becker MA et al. (1980) Variant human phosphoribosylpyrophosphate synthetase altered in regulatory and catalytic functions. |
22. |
Becker MA et al. (1986) Superactivity of human phosphoribosyl pyrophosphate synthetase due to altered regulation by nucleotide inhibitors and inorganic phosphate. |
23. |
Moran R et al. (2012) Phosphoribosylpyrophosphate synthetase superactivity and recurrent infections is caused by a p.Val142Leu mutation in PRS-I. |
24. |
Orphanet article Orphanet ID 411536 |
25. |
OMIM.ORG article Omim 300661 |