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Inborn disorder of purine metabolism

MedGen UID:
977482
Concept ID:
CN294207
Disease or Syndrome
Synonyms: disorder of purine metabolism; Disorder of purine metabolism; inborn disorder of purine metabolism; inborn error of purine nucleobase metabolic process; inborn purine nucleobase metabolic process disorder; rare inborn error of purine nucleobase metabolic process
 
Monarch Initiative: MONDO:0019236
Orphanet: ORPHA79191

Definition

An inherited metabolic disease that is has its basis in the disruption of purine nucleobase metabolic process. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of purine metabolism

Professional guidelines

PubMed

Cakmak Celik F, Ozlu MM, Ceylaner S
Clin Neurol Neurosurg 2021 Mar;202:106506. Epub 2021 Jan 19 doi: 10.1016/j.clineuro.2021.106506. PMID: 33497949
Arredondo-Vega FX, Santisteban I, Daniels S, Toutain S, Hershfield MS
Am J Hum Genet 1998 Oct;63(4):1049-59. doi: 10.1086/302054. PMID: 9758612Free PMC Article
Boss GR, Seegmiller JE
N Engl J Med 1979 Jun 28;300(26):1459-68. doi: 10.1056/NEJM197906283002604. PMID: 221806

Recent clinical studies

Etiology

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
Li J, Sun C, Cai W, Li J, Rosen BP, Chen J
Mutat Res Rev Mutat Res 2021 Jul-Dec;788:108396. Epub 2021 Oct 7 doi: 10.1016/j.mrrev.2021.108396. PMID: 34893161Free PMC Article
Fernandez-Vizarra E, Zeviani M
FEBS Lett 2021 Apr;595(8):1062-1106. Epub 2020 Dec 18 doi: 10.1002/1873-3468.13995. PMID: 33159691
Di Meo I, Carecchio M, Tiranti V
J Inherit Metab Dis 2019 Jan;42(1):49-56. doi: 10.1002/jimd.12026. PMID: 30740736
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

Diagnosis

Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Fernandez-Vizarra E, Zeviani M
FEBS Lett 2021 Apr;595(8):1062-1106. Epub 2020 Dec 18 doi: 10.1002/1873-3468.13995. PMID: 33159691
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J
Lancet Neurol 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801Free PMC Article
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
Torres RJ, Puig JG
Orphanet J Rare Dis 2007 Dec 8;2:48. doi: 10.1186/1750-1172-2-48. PMID: 18067674Free PMC Article

Therapy

Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Park JH, Jo YI, Lee JH
Korean J Intern Med 2020 Nov;35(6):1291-1304. Epub 2020 Sep 9 doi: 10.3904/kjim.2020.410. PMID: 32872730Free PMC Article
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. PMID: 22700886
Boyle JA
Scott Med J 1973;18:Suppl 1:222-31. doi: 10.1177/00369330730180s102. PMID: 4590060
Nyhan WL
Annu Rev Med 1973;24:41-60. doi: 10.1146/annurev.me.24.020173.000353. PMID: 4575865

Prognosis

Tada H, Kojima N, Takamura M, Kawashiri MA
Adv Clin Chem 2022;110:145-169. Epub 2022 Aug 9 doi: 10.1016/bs.acc.2022.06.006. PMID: 36210074
Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J
Lancet Neurol 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801Free PMC Article
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
Westerlinck H, Meylaerts L, Van Hoestenberghe MR, Rossi A
JBR-BTR 2014 Mar-Apr;97(2):113-4. doi: 10.5334/jbr-btr.40. PMID: 25073245
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. PMID: 22700886

Clinical prediction guides

Zech M, Jech R, Boesch S, Škorvánek M, Weber S, Wagner M, Zhao C, Jochim A, Necpál J, Dincer Y, Vill K, Distelmaier F, Stoklosa M, Krenn M, Grunwald S, Bock-Bierbaum T, Fečíková A, Havránková P, Roth J, Příhodová I, Adamovičová M, Ulmanová O, Bechyně K, Danhofer P, Veselý B, Haň V, Pavelekova P, Gdovinová Z, Mantel T, Meindl T, Sitzberger A, Schröder S, Blaschek A, Roser T, Bonfert MV, Haberlandt E, Plecko B, Leineweber B, Berweck S, Herberhold T, Langguth B, Švantnerová J, Minár M, Ramos-Rivera GA, Wojcik MH, Pajusalu S, Õunap K, Schatz UA, Pölsler L, Milenkovic I, Laccone F, Pilshofer V, Colombo R, Patzer S, Iuso A, Vera J, Troncoso M, Fang F, Prokisch H, Wilbert F, Eckenweiler M, Graf E, Westphal DS, Riedhammer KM, Brunet T, Alhaddad B, Berutti R, Strom TM, Hecht M, Baumann M, Wolf M, Telegrafi A, Person RE, Zamora FM, Henderson LB, Weise D, Musacchio T, Volkmann J, Szuto A, Becker J, Cremer K, Sycha T, Zimprich F, Kraus V, Makowski C, Gonzalez-Alegre P, Bardakjian TM, Ozelius LJ, Vetro A, Guerrini R, Maier E, Borggraefe I, Kuster A, Wortmann SB, Hackenberg A, Steinfeld R, Assmann B, Staufner C, Opladen T, Růžička E, Cohn RD, Dyment D, Chung WK, Engels H, Ceballos-Baumann A, Ploski R, Daumke O, Haslinger B, Mall V, Oexle K, Winkelmann J
Lancet Neurol 2020 Nov;19(11):908-918. doi: 10.1016/S1474-4422(20)30312-4. PMID: 33098801Free PMC Article
Park JH, Jo YI, Lee JH
Korean J Intern Med 2020 Nov;35(6):1291-1304. Epub 2020 Sep 9 doi: 10.3904/kjim.2020.410. PMID: 32872730Free PMC Article
Vandekeere S, Dubois C, Kalucka J, Sullivan MR, García-Caballero M, Goveia J, Chen R, Diehl FF, Bar-Lev L, Souffreau J, Pircher A, Kumar S, Vinckier S, Hirabayashi Y, Furuya S, Schoonjans L, Eelen G, Ghesquière B, Keshet E, Li X, Vander Heiden MG, Dewerchin M, Carmeliet P
Cell Metab 2018 Oct 2;28(4):573-587.e13. Epub 2018 Jul 12 doi: 10.1016/j.cmet.2018.06.009. PMID: 30017355
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
Bollée G, Harambat J, Bensman A, Knebelmann B, Daudon M, Ceballos-Picot I
Clin J Am Soc Nephrol 2012 Sep;7(9):1521-7. Epub 2012 Jun 14 doi: 10.2215/CJN.02320312. PMID: 22700886

Recent systematic reviews

Cutillo G, Masnada S, Lesca G, Ville D, Accorsi P, Giordano L, Pichiecchio A, Valente M, Borrelli P, Ferraro OE, Veggiotti P
Epilepsia Open 2024 Feb;9(1):106-121. Epub 2023 Nov 27 doi: 10.1002/epi4.12837. PMID: 37842880Free PMC Article
Monda E, Bakalakos A, Syrris P, Mohiddin S, Ferdinandusse S, Murphy E, Elliott PM
Eur J Med Genet 2023 Dec;66(12):104885. Epub 2023 Nov 17 doi: 10.1016/j.ejmg.2023.104885. PMID: 37979716

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