U.S. flag

An official website of the United States government

Format

Send to:

Choose Destination

Decreased urinary biopterin level

MedGen UID:
1054812
Concept ID:
CN376438
Finding
HPO: HP:0040417

Definition

The amount of biopterin 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

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

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
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
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
Pilka R, Marek R, Adam T, Kudela M, Ondrová D, Neubert D, Hambálek J, Maděrka M, Solichová D, Krčmová LK, Melichar B
Anticancer Res 2016 Jun;36(6):2909-22. PMID: 27272805
Schubert C, Geser W, Noisternig B, Fuchs D, Welzenbach N, König P, Schüßler G, Ocaña-Peinado FM, Lampe A
PLoS One 2012;7(3):e29415. Epub 2012 Mar 5 doi: 10.1371/journal.pone.0029415. PMID: 22403606Free 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
Haberkorn J, Burbaum C, Fritzsche K, Geser W, Fuchs D, Ocaña-Peinado FM, Schubert C
Psychoneuroendocrinology 2013 Oct;38(10):2366-72. Epub 2013 Mar 26 doi: 10.1016/j.psyneuen.2013.03.001. PMID: 23541233
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
Pecoits-Filho R, Heimbürger O, Bárány P, Suliman M, Fehrman-Ekholm I, Lindholm B, Stenvinkel P
Am J Kidney Dis 2003 Jun;41(6):1212-8. doi: 10.1016/s0272-6386(03)00353-6. PMID: 12776273
Hronek M, Zadak Z, Solichova D, Jandik P, Melichar B
Nutrition 2000 Mar;16(3):189-91. doi: 10.1016/s0899-9007(99)00285-3. PMID: 10705073

Therapy

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
Sato H, Uematsu M, Endo W, Nakayama T, Kobayashi T, Hino-Fukuyo N, Sakamoto O, Shintaku H, Kure S
Brain Dev 2014 Mar;36(3):268-71. Epub 2013 May 6 doi: 10.1016/j.braindev.2013.04.003. PMID: 23660475
Imanishi M, Okada N, Konishi Y, Morikawa T, Maeda I, Kitabayashi C, Masada M, Shirahashi N, Wilcox CS, Nishiyama A
J Renin Angiotensin Aldosterone Syst 2013 Mar;14(1):67-73. Epub 2012 Aug 2 doi: 10.1177/1470320312454764. PMID: 22859713
Fiori L, Fiege B, Riva E, Giovannini M
Mol Genet Metab 2005 Dec;86 Suppl 1:S67-74. Epub 2005 Sep 28 doi: 10.1016/j.ymgme.2005.06.017. PMID: 16198137

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
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
Zangerle R, Fuchs D, Sarcletti M, Gallati H, Reibnegger G, Wachter H, Dierich MP, Möst J
Clin Immunol Immunopathol 1994 Sep;72(3):328-34. doi: 10.1006/clin.1994.1149. PMID: 7914841
Lin CY
Nephron 1989;53(2):115-20. doi: 10.1159/000185722. PMID: 2510033

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
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
Zangerle R, Fuchs D, Sarcletti M, Gallati H, Reibnegger G, Wachter H, Dierich MP, Möst J
Clin Immunol Immunopathol 1994 Sep;72(3):328-34. doi: 10.1006/clin.1994.1149. PMID: 7914841
Tilg H, Vogel W, Aulitzky WE, Herold M, Königsrainer A, Margreiter R, Huber C
Transplantation 1990 Jun;49(6):1074-80. doi: 10.1097/00007890-199006000-00009. PMID: 2163132

Supplemental Content

Table of contents

    Clinical resources

    Practice guidelines

    • PubMed
      See practice and clinical guidelines in PubMed. The search results may include broader topics and may not capture all published guidelines. See the FAQ for details.

    Consumer resources

    Recent activity

    Your browsing activity is empty.

    Activity recording is turned off.

    Turn recording back on

    See more...