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  • The following terms were not found in MedGen: 6-Amino-1, benzoxazol, 3-benzoxazol-2.
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tetrahydrobiopterin

MedGen UID:
59063
Concept ID:
C0048897
Amino Acid, Peptide, or Protein; Biologically Active Substance
Synonyms: 5,6,7,8-tetrahydrobiopterin; 6R-BH4; 6R-L-erythro-5,6,7,8-tetrahydrobiopterin; sapropterin
SNOMED CT: Sapropterin (432859002); Sapropterin-containing product (432857000); Tetrahydrobiopterin (259364001)
Drug response:
Tetrahydrobiopterin response
MedGen UID:
979566
Concept ID:
CN297988
Sign or Symptom

Definition

A cofactor that is essential for the activity of aromatic amino acid hydroxylases. Tetrahydrobiopterin degrades phenylalanine, and facilitates the biosynthesis of several neurotransmitters and the production of nitric oxide. [from NCI]

Professional guidelines

PubMed

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
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426Free PMC Article
van Spronsen FJ, van Wegberg AM, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, Trefz FK, van Rijn M, Walter JH, MacDonald A
Lancet Diabetes Endocrinol 2017 Sep;5(9):743-756. Epub 2017 Jan 10 doi: 10.1016/S2213-8587(16)30320-5. PMID: 28082082

Recent clinical studies

Etiology

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
Mitchell SC, Steventon GB
Xenobiotica 2020 Jan;50(1):51-63. Epub 2019 Jul 12 doi: 10.1080/00498254.2019.1636419. PMID: 31233370
Förstermann U, Sessa WC
Eur Heart J 2012 Apr;33(7):829-37, 837a-837d. Epub 2011 Sep 1 doi: 10.1093/eurheartj/ehr304. PMID: 21890489Free PMC Article
Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U
Mol Genet Metab 2011;104 Suppl:S2-9. Epub 2011 Aug 26 doi: 10.1016/j.ymgme.2011.08.017. PMID: 21937252
Ozkor MA, Quyyumi AA
Curr Hypertens Rep 2008 Feb;10(1):58-64. doi: 10.1007/s11906-008-0012-3. PMID: 18367028

Diagnosis

Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA
Hum Genomics 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. PMID: 35854334Free PMC Article
van Spronsen FJ, Blau N, Harding C, Burlina A, Longo N, Bosch AM
Nat Rev Dis Primers 2021 May 20;7(1):36. doi: 10.1038/s41572-021-00267-0. PMID: 34017006Free PMC Article
van Wegberg AMJ, MacDonald A, Ahring K, Bélanger-Quintana A, Blau N, Bosch AM, Burlina A, Campistol J, Feillet F, Giżewska M, Huijbregts SC, Kearney S, Leuzzi V, Maillot F, Muntau AC, van Rijn M, Trefz F, Walter JH, van Spronsen FJ
Orphanet J Rare Dis 2017 Oct 12;12(1):162. doi: 10.1186/s13023-017-0685-2. PMID: 29025426Free PMC Article
Blau N, Hennermann JB, Langenbeck U, Lichter-Konecki U
Mol Genet Metab 2011;104 Suppl:S2-9. Epub 2011 Aug 26 doi: 10.1016/j.ymgme.2011.08.017. PMID: 21937252
Blau N, van Spronsen FJ, Levy HL
Lancet 2010 Oct 23;376(9750):1417-27. doi: 10.1016/S0140-6736(10)60961-0. PMID: 20971365

Therapy

Elhawary NA, AlJahdali IA, Abumansour IS, Elhawary EN, Gaboon N, Dandini M, Madkhali A, Alosaimi W, Alzahrani A, Aljohani F, Melibary EM, Kensara OA
Hum Genomics 2022 Jul 19;16(1):22. doi: 10.1186/s40246-022-00398-9. PMID: 35854334Free PMC Article
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
Ozkor MA, Quyyumi AA
Curr Hypertens Rep 2008 Feb;10(1):58-64. doi: 10.1007/s11906-008-0012-3. PMID: 18367028
Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N
Hum Mutat 2008 Jan;29(1):167-75. doi: 10.1002/humu.20637. PMID: 17935162
Allison AC
Lupus 2005;14 Suppl 1:s2-8. doi: 10.1191/0961203305lu2109oa. PMID: 15803924

Prognosis

Jiang Y, Zhao J, Li R, Liu Y, Zhou L, Wang C, Lv C, Gao L, Cui D
J Exp Clin Cancer Res 2022 Oct 20;41(1):307. doi: 10.1186/s13046-022-02518-8. PMID: 36266731Free PMC Article
Gundorova P, Kuznetcova IA, Baydakova GV, Stepanova AA, Itkis YS, Kakaulina VS, Alferova IP, Lyazina LV, Andreeva LP, Kanivets I, Zakharova EY, Kutsev SI, Polyakov AV
PLoS One 2021;16(4):e0249608. Epub 2021 Apr 6 doi: 10.1371/journal.pone.0249608. PMID: 33822819Free PMC Article
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N
Am J Hum Genet 2020 Aug 6;107(2):234-250. Epub 2020 Jul 14 doi: 10.1016/j.ajhg.2020.06.006. PMID: 32668217Free PMC Article
Blau N
Hum Mutat 2016 Jun;37(6):508-15. Epub 2016 Mar 18 doi: 10.1002/humu.22980. PMID: 26919687
Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N
Hum Mutat 2008 Jan;29(1):167-75. doi: 10.1002/humu.20637. PMID: 17935162

Clinical prediction guides

Czibik G, Mezdari Z, Murat Altintas D, Bréhat J, Pini M, d'Humières T, Delmont T, Radu C, Breau M, Liang H, Martel C, Abatan A, Sarwar R, Marion O, Naushad S, Zhang Y, Halfaoui M, Suffee N, Morin D, Adnot S, Hatem S, Yavari A, Sawaki D, Derumeaux G
Circulation 2021 Aug 17;144(7):559-574. Epub 2021 Jun 24 doi: 10.1161/CIRCULATIONAHA.121.054204. PMID: 34162223
Hillert A, Anikster Y, Belanger-Quintana A, Burlina A, Burton BK, Carducci C, Chiesa AE, Christodoulou J, Đorđević M, Desviat LR, Eliyahu A, Evers RAF, Fajkusova L, Feillet F, Bonfim-Freitas PE, Giżewska M, Gundorova P, Karall D, Kneller K, Kutsev SI, Leuzzi V, Levy HL, Lichter-Konecki U, Muntau AC, Namour F, Oltarzewski M, Paras A, Perez B, Polak E, Polyakov AV, Porta F, Rohrbach M, Scholl-Bürgi S, Spécola N, Stojiljković M, Shen N, Santana-da Silva LC, Skouma A, van Spronsen F, Stoppioni V, Thöny B, Trefz FK, Vockley J, Yu Y, Zschocke J, Hoffmann GF, Garbade SF, Blau N
Am J Hum Genet 2020 Aug 6;107(2):234-250. Epub 2020 Jul 14 doi: 10.1016/j.ajhg.2020.06.006. PMID: 32668217Free PMC Article
Mitchell SC, Steventon GB
Xenobiotica 2020 Jan;50(1):51-63. Epub 2019 Jul 12 doi: 10.1080/00498254.2019.1636419. PMID: 31233370
Blau N
Hum Mutat 2016 Jun;37(6):508-15. Epub 2016 Mar 18 doi: 10.1002/humu.22980. PMID: 26919687
Zurflüh MR, Zschocke J, Lindner M, Feillet F, Chery C, Burlina A, Stevens RC, Thöny B, Blau N
Hum Mutat 2008 Jan;29(1):167-75. doi: 10.1002/humu.20637. PMID: 17935162

Recent systematic reviews

Ramos-Lopez O, Martinez-Aceviz Y, Sobrevilla-Navarro AA, Chavez-Mendez JR
Lifestyle Genom 2024;17(1):57-63. Epub 2024 May 29 doi: 10.1159/000539293. PMID: 38810602
Bokayeva K, Jamka M, Walkowiak D, Duś-Żuchowska M, Herzig KH, Walkowiak J
Int J Mol Sci 2024 May 7;25(10) doi: 10.3390/ijms25105065. PMID: 38791104Free PMC Article
Cavaleri D, Bartoli F, Capogrosso CA, Guzzi P, Moretti F, Riboldi I, Misiak B, Kishi T, Rubin RT, Fuchs D, Crocamo C, Carrà G
Prog Neuropsychopharmacol Biol Psychiatry 2023 Jan 10;120:110633. Epub 2022 Sep 9 doi: 10.1016/j.pnpbp.2022.110633. PMID: 36089162
Evers RAF, van Wegberg AMJ, MacDonald A, Huijbregts SCJ, Leuzzi V, van Spronsen FJ
Nutrients 2022 Sep 19;14(18) doi: 10.3390/nu14183874. PMID: 36145250Free PMC Article
Weissbach A, Pauly MG, Herzog R, Hahn L, Halmans S, Hamami F, Bolte C, Camargos S, Jeon B, Kurian MA, Opladen T, Brüggemann N, Huppertz HJ, König IR, Klein C, Lohmann K
Mov Disord 2022 Feb;37(2):237-252. Epub 2021 Dec 15 doi: 10.1002/mds.28874. PMID: 34908184

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