PRPS1 superactivity is an x-linked recessive disorder caused by mutations of the PRPS1 gene and characterized by uric acid overproduction. Conclusively gout devlops in these patients. Neurological symptoms are not typical of the mild form.
Disorders of urate metabolism | ||||
Gout PRPS-related | ||||
PRPS1 | ||||
Hyperuricemia | ||||
Hypouricemia | ||||
Phosphoribosylpyrophosphate synthetase superactivity | ||||
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 |