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Xu, R. Phosphoribosylpyrophosphate Synthetase Superactivity. Encyclopedia. Available online: https://encyclopedia.pub/entry/5330 (accessed on 21 September 2026).
Xu R. Phosphoribosylpyrophosphate Synthetase Superactivity. Encyclopedia. Available at: https://encyclopedia.pub/entry/5330. Accessed September 21, 2026.
Xu, Rita. "Phosphoribosylpyrophosphate Synthetase Superactivity" Encyclopedia, https://encyclopedia.pub/entry/5330 (accessed September 21, 2026).
Xu, R. (2020, December 24). Phosphoribosylpyrophosphate Synthetase Superactivity. In Encyclopedia. https://encyclopedia.pub/entry/5330
Xu, Rita. "Phosphoribosylpyrophosphate Synthetase Superactivity." Encyclopedia. Web. 24 December, 2020.
Phosphoribosylpyrophosphate Synthetase Superactivity
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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/phosphoribosylpyrophosphate-synthetase-superactivity

Phosphoribosylpyrophosphate synthetase superactivity (PRS superactivity) is characterized by the overproduction and accumulation of uric acid (a waste product of normal chemical processes) in the blood and urine. The overproduction of uric acid can lead to gout, which is arthritis caused by an accumulation of uric acid crystals in the joints. Individuals with PRS superactivity also develop kidney or bladder stones that may result in episodes of acute kidney failure.

genetic conditions

References

  1. Ahmed M, Taylor W, Smith PR, Becker MA. Accelerated transcription of PRPS1 in X-linked overactivity of normal human phosphoribosylpyrophosphate synthetase. JBiol Chem. 1999 Mar 12;274(11):7482-8.
  2. Becker MA, Smith PR, Taylor W, Mustafi R, Switzer RL. The genetic andfunctional basis of purine nucleotide feedback-resistantphosphoribosylpyrophosphate synthetase superactivity. J Clin Invest. 1995Nov;96(5):2133-41.
  3. Becker MA, Taylor W, Smith PR, Ahmed M. Overexpression of the normalphosphoribosylpyrophosphate synthetase 1 isoform underlies catalyticsuperactivity of human phosphoribosylpyrophosphate synthetase. J Biol Chem. 1996 Aug 16;271(33):19894-9.
  4. de Brouwer APM, Duley JA, Christodoulou J. PhosphoribosylpyrophosphateSynthetase Superactivity. 2008 Sep 23 [updated 2015 Dec 17]. In: Adam MP,Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors.GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle;1993-2020. Available from http://www.ncbi.nlm.nih.gov/books/NBK1973/
  5. García-Pavía P, Torres RJ, Rivero M, Ahmed M, García-Puig J, Becker MA.Phosphoribosylpyrophosphate synthetase overactivity as a cause of uric acidoverproduction in a young woman. Arthritis Rheum. 2003 Jul;48(7):2036-41.
  6. Nyhan WL. Disorders of purine and pyrimidine metabolism. Mol Genet Metab. 2005Sep-Oct;86(1-2):25-33. Review.
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Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Rita Xu
View Times: 1.2K
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 Dec 2020
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