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.
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2. |
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3. |
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4. |
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6. |
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8. |
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9. |
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10. |
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11. |
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12. |
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13. |
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14. |
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15. |
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16. |
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17. |
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18. |
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19. |
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20. |
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21. |
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22. |
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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. ![]() |
24. |
Orphanet article Orphanet ID 411536![]() |
25. |
OMIM.ORG article Omim 300661![]() |