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Excessive purine production

MedGen UID:
871171
•Concept ID:
C4025645
•
Finding
HPO: HP:0003142

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVExcessive purine production

Professional guidelines

PubMed

NADPH and Mitochondrial Quality Control as Targets for a Circadian-Based Fasting and Exercise Therapy for the Treatment of Parkinson's Disease.
Curtis WM, Seeds WA, Mattson MP, Bradshaw PC
Cells 2022 Aug 4;11(15) doi: 10.3390/cells11152416. PMID: 35954260Free PMC Article
Bmk9 and Uricase Nanoparticle Complex for the Treatment of Gouty Arthritis and Uric Acid Nephropathy.
Han T, Wang M, Li W, An M, Fu H
J Biomed Nanotechnol 2021 Oct 1;17(10):2071-2084. doi: 10.1166/jbn.2021.3168. PMID: 34706807
Treatment of patients with uric acid stones.
Heilberg IP
Urolithiasis 2016 Feb;44(1):57-63. Epub 2015 Dec 8 doi: 10.1007/s00240-015-0843-8. PMID: 26645868

Recent clinical studies

Diagnosis

Clinical and biochemical manifestations and molecular characterization of the mutation HPRT Jerusalem.
Zoref-Shani E, Bromberg Y, Hirsch J, Feinstein S, Frishberg Y, Sperling O
Nucleosides Nucleotides Nucleic Acids 2004 Oct;23(8-9):1165-8. doi: 10.1081/NCN-200027436. PMID: 15571222
Lesch-Nyhan syndrome in an Arab family. Detection and biochemical manifestation of heterozygosity.
Shaltiel A, Katzuni E, Boer P, Zoref-Shani E, Sperling O
Isr J Med Sci 1981 Dec;17(12):1169-73. PMID: 7327917
Mutant feedback-resistant phosphoribosylpyrophosphate synthetase associated with purine overproduction and gout. Phosphoribosylpyrophosphate and purine metabolism in cultured fibroblasts.
Zoref E, De Vries A, Sperling O
J Clin Invest 1975 Nov;56(5):1093-9. doi: 10.1172/JCI108183. PMID: 171280Free PMC Article

Therapy

Molecular, biochemical, and genetic characterization of a female patient with Lesch-Nyhan disease.
Rinat C, Zoref-Shani E, Ben-Neriah Z, Bromberg Y, Becker-Cohen R, Feinstein S, Sperling O, Frishberg Y
Mol Genet Metab 2006 Mar;87(3):249-52. Epub 2005 Dec 15 doi: 10.1016/j.ymgme.2005.09.025. PMID: 16343967

Supplemental Content

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    Clinical resources

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