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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

D'Annibale OM, Phua YL, Van't Land C, Karunanidhi A, Dorenbaum A, Mohsen AW, Vockley J
Cells 2022 Aug 24;11(17) doi: 10.3390/cells11172635. PMID: 36078043Free PMC Article
Barić I, Staufner C, Augoustides-Savvopoulou P, Chien YH, Dobbelaere D, Grünert SC, Opladen T, Petković Ramadža D, Rakić B, Wedell A, Blom HJ
J Inherit Metab Dis 2017 Jan;40(1):5-20. Epub 2016 Sep 26 doi: 10.1007/s10545-016-9972-7. PMID: 27671891Free PMC Article
Roberts RL, Barclay ML
J Gastroenterol Hepatol 2012 Oct;27(10):1546-54. doi: 10.1111/j.1440-1746.2012.07220.x. PMID: 22741564

Recent clinical studies

Etiology

Dai X, Liu S, Cheng L, Huang T, Guo H, Wang D, Xia M, Ling W, Xiao Y
Circ Res 2022 May 13;130(10):1565-1582. Epub 2022 Apr 12 doi: 10.1161/CIRCRESAHA.121.320251. PMID: 35410483
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
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
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
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
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
Bardou MLD, Henriques MT, Grumach AS
J Pediatr (Rio J) 2021 Mar-Apr;97 Suppl 1(Suppl 1):S75-S83. Epub 2020 Dec 19 doi: 10.1016/j.jped.2020.10.015. PMID: 33347837Free 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
Marinaki AM, Arenas-Hernandez M
Xenobiotica 2020 Jan;50(1):101-109. Epub 2019 Nov 12 doi: 10.1080/00498254.2019.1688424. PMID: 31682552
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

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
Yang H, Zhao C, Tang MC, Wang Y, Wang SP, Allard P, Furtos A, Mitchell GA
Mol Genet Metab 2019 Sep-Oct;128(1-2):30-44. Epub 2019 May 9 doi: 10.1016/j.ymgme.2019.05.002. PMID: 31186158
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

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
Yang H, Zhao C, Tang MC, Wang Y, Wang SP, Allard P, Furtos A, Mitchell GA
Mol Genet Metab 2019 Sep-Oct;128(1-2):30-44. Epub 2019 May 9 doi: 10.1016/j.ymgme.2019.05.002. PMID: 31186158
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

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