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Decreased urinary neopterin level

MedGen UID:
1054290
Concept ID:
CN376441
Finding
HPO: HP:0040420

Definition

The amount of neopterin in the urine, normalized for urine concentration, is below the lower limit of normal. [from HPO]

Term Hierarchy

Conditions with this feature

GTP cyclohydrolase I deficiency with hyperphenylalaninemia
MedGen UID:
988270
Concept ID:
CN305333
Disease or Syndrome
GTP-cyclohydrolase I deficiency, an autosomal recessive genetic disorder, is one of the causes of malignant hyperphenylalaninemia due to tetrahydrobiopterin deficiency. Not only does tetrahydrobiopterin deficiency cause hyperphenylalaninemia, it is also responsible for defective neurotransmission of monoamines because of malfunctioning tyrosine and tryptophan hydroxylases, both tetrahydrobiopterin-dependent hydroxylases.

Professional guidelines

PubMed

Xia Q, Lee MH, Walsh KF, McAulay K, Bean JM, Fitzgerald DW, Dupnik KM, Johnson WD, Pape JW, Rhee KY, Isa F
JCI Insight 2020 Sep 17;5(18) doi: 10.1172/jci.insight.136301. PMID: 32809976Free PMC Article
Levine JJ, Trachtman H, Gold DM, Pettei MJ
Dig Dis Sci 1996 Aug;41(8):1600-3. doi: 10.1007/BF02087907. PMID: 8769286
Di Franco MJ, Marlink R, Hunter DJ, Tosteson T, Mayer K, Essex M
J Acquir Immune Defic Syndr (1988) 1993 Dec;6(12):1297-300. PMID: 8254465

Recent clinical studies

Etiology

Seizer L, Fuchs D, Bliem HR, Schubert C
PLoS One 2023;18(11):e0290032. Epub 2023 Nov 9 doi: 10.1371/journal.pone.0290032. PMID: 37943877Free PMC Article
Baxter-Parker G, Roffe L, Moltchanova E, Jefferies J, Raajasekar S, Hooper G, Gieseg SP
PLoS One 2021;16(8):e0256072. Epub 2021 Aug 17 doi: 10.1371/journal.pone.0256072. PMID: 34403444Free PMC Article
Xia Q, Lee MH, Walsh KF, McAulay K, Bean JM, Fitzgerald DW, Dupnik KM, Johnson WD, Pape JW, Rhee KY, Isa F
JCI Insight 2020 Sep 17;5(18) doi: 10.1172/jci.insight.136301. PMID: 32809976Free PMC Article
Sipahi H, Girgin G, Palabiyik SS, Tutkun E, Yilmaz OH, Baydar T
J Occup Health 2017 Jul 27;59(4):345-351. Epub 2017 Jun 7 doi: 10.1539/joh.16-0273-OA. PMID: 28592710Free PMC Article
Engin AB, Karahalil B, Karakaya AE, Engin A
World J Gastroenterol 2015 Mar 28;21(12):3636-43. doi: 10.3748/wjg.v21.i12.3636. PMID: 25834331Free PMC Article

Diagnosis

Özer Y, Cansever MŞ, Turan H, Bayramoğlu E, Bingöl Aydın D, İşat E, Ceyhun E, Zubarioğlu T, Aktuğlu Zeybek AÇ, Kıykım E, Evliyaoğlu O
J Pharm Biomed Anal 2024 Jun 15;243:116072. Epub 2024 Feb 27 doi: 10.1016/j.jpba.2024.116072. PMID: 38437786
Mohammadi A, Yazdi SZ, Poursina Z, Hampson IN, Vakili V, Sahebkar A, Akbarien MM, Rahimi H, Vakili R, Boostani R, Rafatpanah H
Adv Exp Med Biol 2021;1328:347-359. doi: 10.1007/978-3-030-73234-9_22. PMID: 34981488
Schubert C, Ott M, Hannemann J, Singer M, Bliem HR, Fritzsche K, Burbaum C, Chamson E, Fuchs D
Integr Cancer Ther 2021 Jan-Dec;20:1534735420977697. doi: 10.1177/1534735420977697. PMID: 33412954Free PMC Article
Isa F, Collins S, Lee MH, Decome D, Dorvil N, Joseph P, Smith L, Salerno S, Wells MT, Fischer S, Bean JM, Pape JW, Johnson WD, Fitzgerald DW, Rhee KY
EBioMedicine 2018 May;31:157-165. Epub 2018 Apr 22 doi: 10.1016/j.ebiom.2018.04.014. PMID: 29752217Free PMC Article
Melichar B, Solichová D, Freedman RS
Int J Gynecol Cancer 2006 Jan-Feb;16(1):240-52. doi: 10.1111/j.1525-1438.2006.00294.x. PMID: 16445639

Therapy

Mohammadi A, Yazdi SZ, Poursina Z, Hampson IN, Vakili V, Sahebkar A, Akbarien MM, Rahimi H, Vakili R, Boostani R, Rafatpanah H
Adv Exp Med Biol 2021;1328:347-359. doi: 10.1007/978-3-030-73234-9_22. PMID: 34981488
Xia Q, Lee MH, Walsh KF, McAulay K, Bean JM, Fitzgerald DW, Dupnik KM, Johnson WD, Pape JW, Rhee KY, Isa F
JCI Insight 2020 Sep 17;5(18) doi: 10.1172/jci.insight.136301. PMID: 32809976Free PMC Article
Isa F, Collins S, Lee MH, Decome D, Dorvil N, Joseph P, Smith L, Salerno S, Wells MT, Fischer S, Bean JM, Pape JW, Johnson WD, Fitzgerald DW, Rhee KY
EBioMedicine 2018 May;31:157-165. Epub 2018 Apr 22 doi: 10.1016/j.ebiom.2018.04.014. PMID: 29752217Free PMC Article
Sipahi H, Girgin G, Palabiyik SS, Tutkun E, Yilmaz OH, Baydar T
J Occup Health 2017 Jul 27;59(4):345-351. Epub 2017 Jun 7 doi: 10.1539/joh.16-0273-OA. PMID: 28592710Free PMC Article
Engin AB, Karahalil B, Karakaya AE, Engin A
World J Gastroenterol 2015 Mar 28;21(12):3636-43. doi: 10.3748/wjg.v21.i12.3636. PMID: 25834331Free PMC Article

Prognosis

Seizer L, Fuchs D, Bliem HR, Schubert C
PLoS One 2023;18(11):e0290032. Epub 2023 Nov 9 doi: 10.1371/journal.pone.0290032. PMID: 37943877Free PMC Article
Xia Q, Lee MH, Walsh KF, McAulay K, Bean JM, Fitzgerald DW, Dupnik KM, Johnson WD, Pape JW, Rhee KY, Isa F
JCI Insight 2020 Sep 17;5(18) doi: 10.1172/jci.insight.136301. PMID: 32809976Free PMC Article
Pichler R, Gruenbacher G, Culig Z, Brunner A, Fuchs D, Fritz J, Gander H, Rahm A, Thurnher M
Cancer Immunol Immunother 2017 Apr;66(4):427-440. Epub 2016 Dec 22 doi: 10.1007/s00262-016-1945-z. PMID: 28005163Free PMC Article
Melichar B, Solichová D, Freedman RS
Int J Gynecol Cancer 2006 Jan-Feb;16(1):240-52. doi: 10.1111/j.1525-1438.2006.00294.x. PMID: 16445639
Prior C, Frank A, Fuchs D, Hausen A, Judmaier G, Reibnegger G, Werner ER, Wachter H
Clin Chim Acta 1988 Oct 31;177(3):211-20. doi: 10.1016/0009-8981(88)90065-4. PMID: 3233769

Clinical prediction guides

Seizer L, Fuchs D, Bliem HR, Schubert C
PLoS One 2023;18(11):e0290032. Epub 2023 Nov 9 doi: 10.1371/journal.pone.0290032. PMID: 37943877Free PMC Article
Mohammadi A, Yazdi SZ, Poursina Z, Hampson IN, Vakili V, Sahebkar A, Akbarien MM, Rahimi H, Vakili R, Boostani R, Rafatpanah H
Adv Exp Med Biol 2021;1328:347-359. doi: 10.1007/978-3-030-73234-9_22. PMID: 34981488
Pichler R, Gruenbacher G, Culig Z, Brunner A, Fuchs D, Fritz J, Gander H, Rahm A, Thurnher M
Cancer Immunol Immunother 2017 Apr;66(4):427-440. Epub 2016 Dec 22 doi: 10.1007/s00262-016-1945-z. PMID: 28005163Free PMC Article
Melichar B, Solichová D, Freedman RS
Int J Gynecol Cancer 2006 Jan-Feb;16(1):240-52. doi: 10.1111/j.1525-1438.2006.00294.x. PMID: 16445639
Marfella A, Bilancio A, Polese C, Iodice F, Edmondo C, Cerasuolo D, Esposito G, Zannoni V, Beneduce G
Int J Immunopharmacol 1999 Jul;21(7):423-33. doi: 10.1016/s0192-0561(99)00021-1. PMID: 10454016

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