Format

Send to:

Choose Destination

Disorder of purine and pyrimidine metabolism

MedGen UID:
48263
Concept ID:
C0034139
Disease or Syndrome
Synonyms: Purine Pyrimidine Metabolism, Inborn Errors; Purine-Pyrimidine Metabolism, Inborn Errors
SNOMED CT: Purine and pyrimidine metabolism disorder (238006008); Disorder of purine and pyrimidine metabolism (238006008)
 
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  
  • CROGVDisorder of purine and pyrimidine metabolism
Follow this link to review classifications for Disorder of purine and pyrimidine metabolism in Orphanet.

Recent clinical studies

Etiology

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
Balasubramaniam S, Duley JA, Christodoulou J
J Inherit Metab Dis 2014 Sep;37(5):687-98. Epub 2014 Jul 17 doi: 10.1007/s10545-014-9742-3. PMID: 25030255
Balasubramaniam S, Duley JA, Christodoulou J
J Inherit Metab Dis 2014 Sep;37(5):669-86. Epub 2014 Jun 28 doi: 10.1007/s10545-014-9731-6. PMID: 24972650
Jinnah HA, Sabina RL, Van Den Berghe G
Handb Clin Neurol 2013;113:1827-36. doi: 10.1016/B978-0-444-59565-2.00052-6. PMID: 23622405Free PMC Article
Micheli V, Camici M, Tozzi MG, Ipata PL, Sestini S, Bertelli M, Pompucci G
Curr Top Med Chem 2011;11(8):923-47. PMID: 21401501

Diagnosis

Sklirou E, Lichter-Konecki U
Pediatr Clin North Am 2018 Apr;65(2):267-277. doi: 10.1016/j.pcl.2017.11.009. PMID: 29502913
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
la Marca G, Canessa C, Giocaliere E, Romano F, Malvagia S, Funghini S, Moriondo M, Valleriani C, Lippi F, Ombrone D, Della Bona ML, Speckmann C, Borte S, Brodszki N, Gennery AR, Weinacht K, Celmeli F, Pagel J, de Martino M, Guerrini R, Wittkowski H, Santisteban I, Bali P, Ikinciogullari A, Hershfield M, Notarangelo LD, Resti M, Azzari C
J Allergy Clin Immunol 2014 Jul;134(1):155-9. Epub 2014 Apr 24 doi: 10.1016/j.jaci.2014.01.040. PMID: 24767876
Jinnah HA, Sabina RL, Van Den Berghe G
Handb Clin Neurol 2013;113:1827-36. doi: 10.1016/B978-0-444-59565-2.00052-6. PMID: 23622405Free PMC Article
Jurecka A
J Inherit Metab Dis 2009 Apr;32(2):247-63. Epub 2009 Mar 15 doi: 10.1007/s10545-009-1094-z. PMID: 19291420

Therapy

Khoja S, Nitzahn M, Hermann K, Truong B, Borzone R, Willis B, Rudd M, Palmer DJ, Ng P, Brunetti-Pierri N, Lipshutz GS
Mol Genet Metab 2018 Aug;124(4):243-253. Epub 2018 Apr 12 doi: 10.1016/j.ymgme.2018.04.001. PMID: 29801986Free PMC Article
Med Lett Drugs Ther 2016 Mar 28;58(1491):e49. PMID: 27027693
van Werkhoven MA, Duley JA, McGown I, Munce T, Freeman JL, Pitt JJ
Dev Med Child Neurol 2013 Nov;55(11):1060-4. Epub 2013 Aug 13 doi: 10.1111/dmcn.12244. PMID: 23937257
Pérez-Dueñas B, Sempere A, Campistol J, Alonso-Colmenero I, Díez M, González V, Merinero B, Desviat LR, Artuch R
Eur J Paediatr Neurol 2012 Jul;16(4):343-8. Epub 2011 Sep 7 doi: 10.1016/j.ejpn.2011.08.008. PMID: 21903433
Simmonds HA, Cameron JS, Goldsmith DJ, Fairbanks LD, Raman GV
Nucleosides Nucleotides Nucleic Acids 2006;25(9-11):1071-5. doi: 10.1080/15257770600891028. PMID: 17065066

Prognosis

Macchiaiolo M, Barresi S, Cecconi F, Zanni G, Niceta M, Bellacchio E, Lazzarino G, Amorini AM, Bertini ES, Rizza S, Contardi B, Tartaglia M, Bartuli A
Ital J Pediatr 2017 Aug 2;43(1):65. doi: 10.1186/s13052-017-0383-7. PMID: 28768552Free 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
Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY; FORGE Canada Consortium., Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT
Orphanet J Rare Dis 2013 Jul 9;8:98. doi: 10.1186/1750-1172-8-98. PMID: 23835272Free PMC Article
Jurecka A, Opoka-Winiarska V, Rokicki D, Tylki-Szymańska A
J Child Neurol 2012 May;27(5):645-9. Epub 2011 Dec 2 doi: 10.1177/0883073811424465. PMID: 22140128
Cochat P, Pichault V, Bacchetta J, Dubourg L, Sabot JF, Saban C, Daudon M, Liutkus A
Pediatr Nephrol 2010 Mar;25(3):415-24. Epub 2009 Jan 21 doi: 10.1007/s00467-008-1085-6. PMID: 19156444Free PMC Article

Clinical prediction guides

Lim L, Palayer M, Bruneau A, Letournel F, Le Maréchal C, Simard G, Reynier P, Homedan C, Nadaj-Pakleza A
Ann Biol Clin (Paris) 2017 Aug 1;75(4):445-449. doi: 10.1684/abc.2017.1253. PMID: 28751290
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
Marcadier JL, Smith AM, Pohl D, Schwartzentruber J, Al-Dirbashi OY; FORGE Canada Consortium., Majewski J, Ferdinandusse S, Wanders RJ, Bulman DE, Boycott KM, Chakraborty P, Geraghty MT
Orphanet J Rare Dis 2013 Jul 9;8:98. doi: 10.1186/1750-1172-8-98. PMID: 23835272Free PMC Article
Ray SP, Duval N, Wilkinson TG 2nd, Shaheen SE, Ghosh K, Patterson D
Biochim Biophys Acta 2013 Aug;1834(8):1545-53. Epub 2013 May 25 doi: 10.1016/j.bbapap.2013.05.013. PMID: 23714113
Chen BC, McGown IN, Thong MK, Pitt J, Yunus ZM, Khoo TB, Ngu LH, Duley JA
J Inherit Metab Dis 2010 Dec;33 Suppl 3:S159-62. Epub 2010 Feb 23 doi: 10.1007/s10545-010-9056-z. PMID: 20177786

Recent systematic reviews

Zhang T, Yang F, Li J, Pan Z
Semin Arthritis Rheum 2019 Feb;48(4):649-657. Epub 2018 May 1 doi: 10.1016/j.semarthrit.2018.04.006. PMID: 29804629
Bayat S, Baraf HSB, Rech J
Clin Exp Rheumatol 2018 Sep-Oct;36 Suppl 114(5):53-60. Epub 2018 Oct 1 PMID: 30296979
Evans PL, Prior JA, Belcher J, Mallen CD, Hay CA, Roddy E
Arthritis Res Ther 2018 Jul 5;20(1):136. doi: 10.1186/s13075-018-1612-1. PMID: 29976236Free PMC Article
Stamp L, Morillon MB, Taylor WJ, Dalbeth N, Singh JA, Lassere M, Christensen R
Semin Arthritis Rheum 2018 Oct;48(2):293-301. Epub 2018 Feb 21 doi: 10.1016/j.semarthrit.2018.02.009. PMID: 29566967
Costa N, Ferreira ML, Cross M, Makovey J, Hodges PW
Semin Arthritis Rheum 2018 Oct;48(2):302-317. Epub 2018 Jan 31 doi: 10.1016/j.semarthrit.2018.01.012. PMID: 29496226

Supplemental Content

Table of contents

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...
    Support Center