Phosphoribosyl pyrophosphate synthase superactivity (Q97745): Difference between revisions
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Revision as of 13:52, 16 August 2026
Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is a rare X chromosome-linked disorder of purine metabolism in which excessive Phosphoribosyl Pyrophosphate Synthetase (PRS) activity results in accelerated purine nucleotide and uric acid synthesis. In affected men presenting in late adolescence or early adulthood, gouty arthritis and urinary tract stones are usually the sole manifestations of PRS superactivity.
| Language | Label | Description | Also known as |
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| default for all languages | ID_1484121955 |
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| English | Phosphoribosyl pyrophosphate synthase superactivity |
Phosphoribosylpyrophosphate (PRPP) synthetase superactivity is a rare X chromosome-linked disorder of purine metabolism in which excessive Phosphoribosyl Pyrophosphate Synthetase (PRS) activity results in accelerated purine nucleotide and uric acid synthesis. In affected men presenting in late adolescence or early adulthood, gouty arthritis and urinary tract stones are usually the sole manifestations of PRS superactivity. |
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CID11:ID_1484121955
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