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Disorder of pterin metabolism

MedGen UID:
832732
Concept ID:
CN227201
Disease or Syndrome
Synonym: disorder of pterin metabolism
 
Monarch Initiative: MONDO:0017756
Orphanet: ORPHA309819

Term Hierarchy

Professional guidelines

PubMed

Hendriks E, Rosenberg R, Prine L
Am Fam Physician 2020 May 15;101(10):599-606. PMID: 32412215
Hellmich B, Agueda A, Monti S, Buttgereit F, de Boysson H, Brouwer E, Cassie R, Cid MC, Dasgupta B, Dejaco C, Hatemi G, Hollinger N, Mahr A, Mollan SP, Mukhtyar C, Ponte C, Salvarani C, Sivakumar R, Tian X, Tomasson G, Turesson C, Schmidt W, Villiger PM, Watts R, Young C, Luqmani RA
Ann Rheum Dis 2020 Jan;79(1):19-30. Epub 2019 Jul 3 doi: 10.1136/annrheumdis-2019-215672. PMID: 31270110
Devalia V, Hamilton MS, Molloy AM; British Committee for Standards in Haematology
Br J Haematol 2014 Aug;166(4):496-513. Epub 2014 Jun 18 doi: 10.1111/bjh.12959. PMID: 24942828

Recent clinical studies

Etiology

Green R, Miller JW
Vitam Horm 2022;119:405-439. Epub 2022 Mar 11 doi: 10.1016/bs.vh.2022.02.003. PMID: 35337628
Shulpekova Y, Nechaev V, Kardasheva S, Sedova A, Kurbatova A, Bueverova E, Kopylov A, Malsagova K, Dlamini JC, Ivashkin V
Molecules 2021 Jun 18;26(12) doi: 10.3390/molecules26123731. PMID: 34207319Free PMC Article
Clare CE, Brassington AH, Kwong WY, Sinclair KD
Annu Rev Anim Biosci 2019 Feb 15;7:263-287. Epub 2018 Nov 9 doi: 10.1146/annurev-animal-020518-115206. PMID: 30412672
van Gool JD, Hirche H, Lax H, De Schaepdrijver L
Reprod Toxicol 2018 Sep;80:73-84. Epub 2018 May 16 doi: 10.1016/j.reprotox.2018.05.004. PMID: 29777755
Scaglione F, Panzavolta G
Xenobiotica 2014 May;44(5):480-8. Epub 2014 Feb 4 doi: 10.3109/00498254.2013.845705. PMID: 24494987

Diagnosis

Sahu P, Thippeswamy H, Chaturvedi SK
Vitam Horm 2022;119:457-470. Epub 2022 Mar 3 doi: 10.1016/bs.vh.2022.01.001. PMID: 35337631
Green R, Miller JW
Vitam Horm 2022;119:405-439. Epub 2022 Mar 11 doi: 10.1016/bs.vh.2022.02.003. PMID: 35337628
Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD)
Orphanet J Rare Dis 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. PMID: 32456656Free PMC Article
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928
Naviaux RK
Mitochondrion 2014 May;16:7-17. Epub 2013 Aug 24 doi: 10.1016/j.mito.2013.08.006. PMID: 23981537

Therapy

Opladen T, López-Laso E, Cortès-Saladelafont E, Pearson TS, Sivri HS, Yildiz Y, Assmann B, Kurian MA, Leuzzi V, Heales S, Pope S, Porta F, García-Cazorla A, Honzík T, Pons R, Regal L, Goez H, Artuch R, Hoffmann GF, Horvath G, Thöny B, Scholl-Bürgi S, Burlina A, Verbeek MM, Mastrangelo M, Friedman J, Wassenberg T, Jeltsch K, Kulhánek J, Kuseyri Hübschmann O; International Working Group on Neurotransmitter related Disorders (iNTD)
Orphanet J Rare Dis 2020 May 26;15(1):126. doi: 10.1186/s13023-020-01379-8. PMID: 32456656Free PMC Article
Alqarni AM, Zeidler MP
Biochem Soc Trans 2020 Apr 29;48(2):559-567. doi: 10.1042/BST20190803. PMID: 32239204
van Gool JD, Hirche H, Lax H, De Schaepdrijver L
Reprod Toxicol 2018 Sep;80:73-84. Epub 2018 May 16 doi: 10.1016/j.reprotox.2018.05.004. PMID: 29777755
Blair HA, Deeks ED
Drugs 2017 Jul;77(11):1221-1233. doi: 10.1007/s40265-017-0775-4. PMID: 28608166
Ebara S
Congenit Anom (Kyoto) 2017 Sep;57(5):138-141. Epub 2017 Jul 25 doi: 10.1111/cga.12233. PMID: 28603928

Prognosis

Green R, Miller JW
Vitam Horm 2022;119:405-439. Epub 2022 Mar 11 doi: 10.1016/bs.vh.2022.02.003. PMID: 35337628
Oliai Araghi S, Kiefte-de Jong JC, van Dijk SC, Swart KMA, van Laarhoven HW, van Schoor NM, de Groot LCPGM, Lemmens V, Stricker BH, Uitterlinden AG, van der Velde N
Cancer Epidemiol Biomarkers Prev 2019 Feb;28(2):275-282. Epub 2018 Oct 19 doi: 10.1158/1055-9965.EPI-17-1198. PMID: 30341095
Vockley J, Andersson HC, Antshel KM, Braverman NE, Burton BK, Frazier DM, Mitchell J, Smith WE, Thompson BH, Berry SA; American College of Medical Genetics and Genomics Therapeutics Committee
Genet Med 2014 Feb;16(2):188-200. Epub 2013 Oct 10 doi: 10.1038/gim.2013.157. PMID: 24385074
Asmus F, Gasser T
Eur J Neurol 2010 Jul;17 Suppl 1:37-45. doi: 10.1111/j.1468-1331.2010.03049.x. PMID: 20590807
Snodgrass SR
Mol Neurobiol 1992 Spring;6(1):41-73. doi: 10.1007/BF02935566. PMID: 1463588

Clinical prediction guides

Green R, Miller JW
Vitam Horm 2022;119:405-439. Epub 2022 Mar 11 doi: 10.1016/bs.vh.2022.02.003. PMID: 35337628
Hoxha B, Hoxha M, Domi E, Gervasoni J, Persichilli S, Malaj V, Zappacosta B
Cells 2021 Aug 3;10(8) doi: 10.3390/cells10081976. PMID: 34440744Free PMC Article
Shulpekova Y, Nechaev V, Kardasheva S, Sedova A, Kurbatova A, Bueverova E, Kopylov A, Malsagova K, Dlamini JC, Ivashkin V
Molecules 2021 Jun 18;26(12) doi: 10.3390/molecules26123731. PMID: 34207319Free PMC Article
Regidor PA, Schindler AE, Lesoine B, Druckman R
Horm Mol Biol Clin Investig 2018 Mar 2;34(2) doi: 10.1515/hmbci-2017-0067. PMID: 29498933
Kay J, Upchurch KS
Rheumatology (Oxford) 2012 Dec;51 Suppl 6:vi5-9. doi: 10.1093/rheumatology/kes279. PMID: 23221588

Recent systematic reviews

Hoxha B, Hoxha M, Domi E, Gervasoni J, Persichilli S, Malaj V, Zappacosta B
Cells 2021 Aug 3;10(8) doi: 10.3390/cells10081976. PMID: 34440744Free PMC Article
Tam E, Keats EC, Rind F, Das JK, Bhutta AZA
Nutrients 2020 Jan 21;12(2) doi: 10.3390/nu12020289. PMID: 31973225Free PMC Article
Alfaro-Lara R, Espinosa-Ortega HF, Arce-Salinas CA; PRECIS study group, all physicians belong to Division of Internal Medicine. Hospital Central Sur de Pemex
Reumatol Clin (Engl Ed) 2019 May-Jun;15(3):133-139. Epub 2017 Sep 1 doi: 10.1016/j.reuma.2017.07.020. PMID: 28867467
Wang W, Zhou H, Liu L
Eur J Med Chem 2018 Oct 5;158:502-516. Epub 2018 Sep 13 doi: 10.1016/j.ejmech.2018.09.027. PMID: 30243154
Cooper C, Sommerlad A, Lyketsos CG, Livingston G
Am J Psychiatry 2015 Apr;172(4):323-34. Epub 2015 Feb 20 doi: 10.1176/appi.ajp.2014.14070878. PMID: 25698435

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