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Inborn disorder of purine or pyrimidine metabolism

MedGen UID:
48263
Concept ID:
C0034139
Disease or Syndrome
Synonym: Purine-Pyrimidine Metabolism, Inborn Errors
SNOMED CT: Purine and pyrimidine metabolism disorder (238006008); Disorder of purine and pyrimidine metabolism (238006008)
 
Monarch Initiative: MONDO:0019254
Orphanet: ORPHA79224

Definition

Dysfunctions in the metabolism of PURINES or PYRIMIDINES resulting from inborn genetic mutations that are inherited or acquired in utero. [from MeSH]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of purine or pyrimidine metabolism
Follow this link to review classifications for Inborn disorder of purine or pyrimidine metabolism in Orphanet.

Professional guidelines

PubMed

Cooper-DeHoff RM, Niemi M, Ramsey LB, Luzum JA, Tarkiainen EK, Straka RJ, Gong L, Tuteja S, Wilke RA, Wadelius M, Larson EA, Roden DM, Klein TE, Yee SW, Krauss RM, Turner RM, Palaniappan L, Gaedigk A, Giacomini KM, Caudle KE, Voora D
Clin Pharmacol Ther 2022 May;111(5):1007-1021. Epub 2022 Mar 11 doi: 10.1002/cpt.2557. PMID: 35152405Free PMC Article
Chu CM, Lowder JL
Am J Obstet Gynecol 2018 Jul;219(1):40-51. Epub 2018 Jan 2 doi: 10.1016/j.ajog.2017.12.231. PMID: 29305250
Baccarani M, Deininger MW, Rosti G, Hochhaus A, Soverini S, Apperley JF, Cervantes F, Clark RE, Cortes JE, Guilhot F, Hjorth-Hansen H, Hughes TP, Kantarjian HM, Kim DW, Larson RA, Lipton JH, Mahon FX, Martinelli G, Mayer J, Müller MC, Niederwieser D, Pane F, Radich JP, Rousselot P, Saglio G, Saußele S, Schiffer C, Silver R, Simonsson B, Steegmann JL, Goldman JM, Hehlmann R
Blood 2013 Aug 8;122(6):872-84. Epub 2013 Jun 26 doi: 10.1182/blood-2013-05-501569. PMID: 23803709Free PMC Article

Recent clinical studies

Etiology

Luukkonen PK, Sakuma I, Gaspar RC, Mooring M, Nasiri A, Kahn M, Zhang XM, Zhang D, Sammalkorpi H, Penttilä AK, Orho-Melander M, Arola J, Juuti A, Zhang X, Yimlamai D, Yki-Järvinen H, Petersen KF, Shulman GI
Proc Natl Acad Sci U S A 2023 Jan 24;120(4):e2217543120. Epub 2023 Jan 20 doi: 10.1073/pnas.2217543120. PMID: 36669104Free PMC Article
Mercuri E, Baranello G, Boespflug-Tanguy O, De Waele L, Goemans N, Kirschner J, Masson R, Mazzone ES, Pechmann A, Pera MC, Vuillerot C, Bader-Weder S, Gerber M, Gorni K, Hoffart J, Kletzl H, Martin C, McIver T, Scalco RS, Yeung WY, Servais L; SUNFISH Working Group
Eur J Neurol 2023 Jul;30(7):1945-1956. Epub 2022 Aug 1 doi: 10.1111/ene.15499. PMID: 35837793
Ghiboub M, Penny S, Verburgt CM, Boneh RS, Wine E, Cohen A, Dunn KA, Pinto DM, Benninga MA, de Jonge WJ, Levine A, Van Limbergen JE
Gastroenterology 2022 Oct;163(4):922-936.e15. Epub 2022 Jun 7 doi: 10.1053/j.gastro.2022.05.050. PMID: 35679949
Jurecka A, Tylki-Szymanska A
Mol Genet Metab 2022 Jul;136(3):164-176. Epub 2022 Feb 19 doi: 10.1016/j.ymgme.2022.02.007. PMID: 35216884
Marinaki AM, Arenas-Hernandez M
Xenobiotica 2020 Jan;50(1):101-109. Epub 2019 Nov 12 doi: 10.1080/00498254.2019.1688424. PMID: 31682552

Diagnosis

Spanogiannopoulos P, Kyaw TS, Guthrie BGH, Bradley PH, Lee JV, Melamed J, Malig YNA, Lam KN, Gempis D, Sandy M, Kidder W, Van Blarigan EL, Atreya CE, Venook A, Gerona RR, Goga A, Pollard KS, Turnbaugh PJ
Nat Microbiol 2022 Oct;7(10):1605-1620. Epub 2022 Sep 22 doi: 10.1038/s41564-022-01226-5. PMID: 36138165Free PMC Article
Ghiboub M, Penny S, Verburgt CM, Boneh RS, Wine E, Cohen A, Dunn KA, Pinto DM, Benninga MA, de Jonge WJ, Levine A, Van Limbergen JE
Gastroenterology 2022 Oct;163(4):922-936.e15. Epub 2022 Jun 7 doi: 10.1053/j.gastro.2022.05.050. PMID: 35679949
Dewulf JP, Marie S, Nassogne MC
Mol Genet Metab 2022 Jul;136(3):190-198. Epub 2021 Dec 30 doi: 10.1016/j.ymgme.2021.12.016. PMID: 34998670
Cantor JR, Abu-Remaileh M, Kanarek N, Freinkman E, Gao X, Louissaint A Jr, Lewis CA, Sabatini DM
Cell 2017 Apr 6;169(2):258-272.e17. doi: 10.1016/j.cell.2017.03.023. PMID: 28388410Free PMC Article
Peng B, Lloyd P, Schran H
Clin Pharmacokinet 2005;44(9):879-94. doi: 10.2165/00003088-200544090-00001. PMID: 16122278

Therapy

Chifotides HT, Bose P, Verstovsek S
J Hematol Oncol 2022 Jan 19;15(1):7. doi: 10.1186/s13045-021-01157-4. PMID: 35045875Free PMC Article
Dhillon S
Drugs 2020 Nov;80(17):1853-1858. doi: 10.1007/s40265-020-01410-z. PMID: 33044711
Kaur Gill A, Bansal Y, Bhandari R, Kaur S, Kaur J, Singh R, Kuhad A, Kuhad A
Drugs Today (Barc) 2019 Jul;55(7):423-437. doi: 10.1358/dot.2019.55.7.2958474. PMID: 31347611
Zhou L, Jiang Y, Luo Q, Li L, Jia L
Mol Cancer 2019 Apr 3;18(1):77. doi: 10.1186/s12943-019-0979-1. PMID: 30943988Free PMC Article
Armstrong PW, Roessig L, Patel MJ, Anstrom KJ, Butler J, Voors AA, Lam CSP, Ponikowski P, Temple T, Pieske B, Ezekowitz J, Hernandez AF, Koglin J, O'Connor CM
JACC Heart Fail 2018 Feb;6(2):96-104. Epub 2017 Oct 11 doi: 10.1016/j.jchf.2017.08.013. PMID: 29032136

Prognosis

Luukkonen PK, Sakuma I, Gaspar RC, Mooring M, Nasiri A, Kahn M, Zhang XM, Zhang D, Sammalkorpi H, Penttilä AK, Orho-Melander M, Arola J, Juuti A, Zhang X, Yimlamai D, Yki-Järvinen H, Petersen KF, Shulman GI
Proc Natl Acad Sci U S A 2023 Jan 24;120(4):e2217543120. Epub 2023 Jan 20 doi: 10.1073/pnas.2217543120. PMID: 36669104Free PMC Article
Armstrong PW, Pieske B, Anstrom KJ, Ezekowitz J, Hernandez AF, Butler J, Lam CSP, Ponikowski P, Voors AA, Jia G, McNulty SE, Patel MJ, Roessig L, Koglin J, O'Connor CM; VICTORIA Study Group
N Engl J Med 2020 May 14;382(20):1883-1893. Epub 2020 Mar 28 doi: 10.1056/NEJMoa1915928. PMID: 32222134
Shukla SK, Purohit V, Mehla K, Gunda V, Chaika NV, Vernucci E, King RJ, Abrego J, Goode GD, Dasgupta A, Illies AL, Gebregiworgis T, Dai B, Augustine JJ, Murthy D, Attri KS, Mashadova O, Grandgenett PM, Powers R, Ly QP, Lazenby AJ, Grem JL, Yu F, Matés JM, Asara JM, Kim JW, Hankins JH, Weekes C, Hollingsworth MA, Serkova NJ, Sasson AR, Fleming JB, Oliveto JM, Lyssiotis CA, Cantley LC, Berim L, Singh PK
Cancer Cell 2017 Jul 10;32(1):71-87.e7. doi: 10.1016/j.ccell.2017.06.004. PMID: 28697344Free PMC Article
Theuretzbacher U, Ihle F, Derendorf H
Clin Pharmacokinet 2006;45(7):649-63. doi: 10.2165/00003088-200645070-00002. PMID: 16802848
Peng B, Lloyd P, Schran H
Clin Pharmacokinet 2005;44(9):879-94. doi: 10.2165/00003088-200544090-00001. PMID: 16122278

Clinical prediction guides

Ratni H, Ebeling M, Baird J, Bendels S, Bylund J, Chen KS, Denk N, Feng Z, Green L, Guerard M, Jablonski P, Jacobsen B, Khwaja O, Kletzl H, Ko CP, Kustermann S, Marquet A, Metzger F, Mueller B, Naryshkin NA, Paushkin SV, Pinard E, Poirier A, Reutlinger M, Weetall M, Zeller A, Zhao X, Mueller L
J Med Chem 2018 Aug 9;61(15):6501-6517. Epub 2018 Jul 25 doi: 10.1021/acs.jmedchem.8b00741. PMID: 30044619
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A
J Inherit Metab Dis 2015 Mar;38(2):231-42. Epub 2014 Aug 12 doi: 10.1007/s10545-014-9755-y. PMID: 25112391Free PMC Article
Korashy HM, Rahman AF, Kassem MG
Profiles Drug Subst Excip Relat Methodol 2014;39:205-37. doi: 10.1016/B978-0-12-800173-8.00004-0. PMID: 24794907
Theuretzbacher U, Ihle F, Derendorf H
Clin Pharmacokinet 2006;45(7):649-63. doi: 10.2165/00003088-200645070-00002. PMID: 16802848
Peng B, Lloyd P, Schran H
Clin Pharmacokinet 2005;44(9):879-94. doi: 10.2165/00003088-200544090-00001. PMID: 16122278

Recent systematic reviews

Beunk L, Nijenhuis M, Soree B, de Boer-Veger NJ, Buunk AM, Guchelaar HJ, Houwink EJF, Risselada A, Rongen GAPJM, van Schaik RHN, Swen JJ, Touw D, van Westrhenen R, Deneer VHM, van der Weide J
Eur J Hum Genet 2024 Mar;32(3):278-285. Epub 2023 Mar 31 doi: 10.1038/s41431-023-01347-3. PMID: 37002327Free PMC Article
Mateos-Haro M, Novoa-Candia M, Sánchez Vanegas G, Correa-Pérez A, Gaetano Gil A, Fernández-García S, Ortega-Quijano D, Urueña Rodriguez MG, Saceda-Corralo D, Bennouna-Dalero T, Giraldo L, Tomlinson J, Vaño-Galván S, Zamora J
Cochrane Database Syst Rev 2023 Oct 23;10(10):CD013719. doi: 10.1002/14651858.CD013719.pub2. PMID: 37870096Free PMC Article
Fujii T, Salanti G, Belletti A, Bellomo R, Carr A, Furukawa TA, Luethi N, Luo Y, Putzu A, Sartini C, Tsujimoto Y, Udy AA, Yanase F, Young PJ
Intensive Care Med 2022 Jan;48(1):16-24. Epub 2021 Nov 9 doi: 10.1007/s00134-021-06558-0. PMID: 34750650Free PMC Article
Jasielski P, Piędel F, Piwek M, Rocka A, Petit V, Rejdak K
Nutrients 2020 Oct 12;12(10) doi: 10.3390/nu12103113. PMID: 33053828Free PMC Article
Olivera PA, Lasa JS, Bonovas S, Danese S, Peyrin-Biroulet L
Gastroenterology 2020 May;158(6):1554-1573.e12. Epub 2020 Jan 9 doi: 10.1053/j.gastro.2020.01.001. PMID: 31926171

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