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Tryptophan 5-monooxygenase deficiency

MedGen UID:
468570
Concept ID:
CN120491
Disease or Syndrome
Synonyms: Tryptophan Hydroxylase Deficiency
 
Gene (location): TPH2 (12q21.1)

Recent clinical studies

Etiology

Mosienko V, Beis D, Pasqualetti M, Waider J, Matthes S, Qadri F, Bader M, Alenina N
Behav Brain Res 2015 Jan 15;277:78-88. Epub 2014 Jun 11 doi: 10.1016/j.bbr.2014.06.005. [Epub ahead of print] PMID: 24928769
Patrick RP, Ames BN
FASEB J 2014 Jun;28(6):2398-413. Epub 2014 Feb 20 doi: 10.1096/fj.13-246546. [Epub ahead of print] PMID: 24558199
Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW
Metabolism 2014 Jan;63(1):42-9. Epub 2013 Oct 18 doi: 10.1016/j.metabol.2013.08.015. [Epub ahead of print] PMID: 24140098
Rothman RB, Cadet JL, Dersch CM, McCoy MT, Lehrmann E, Becker KG, Bader M, Alenina N, Baumann MH
PLoS One 2011 Mar 25;6(3):e17735. doi: 10.1371/journal.pone.0017735. PMID: 21464983Free PMC Article
Gutknecht L, Jacob C, Strobel A, Kriegebaum C, Müller J, Zeng Y, Markert C, Escher A, Wendland J, Reif A, Mössner R, Gross C, Brocke B, Lesch KP
Int J Neuropsychopharmacol 2007 Jun;10(3):309-20. Epub 2006 Dec 19 doi: 10.1017/S1461145706007437. [Epub ahead of print] PMID: 17176492

Diagnosis

Kuhn DM, Sykes CE, Geddes TJ, Jaunarajs KL, Bishop C
J Neurochem 2011 Feb;116(3):426-37. Epub 2010 Dec 13 doi: 10.1111/j.1471-4159.2010.07123.x. [Epub ahead of print] PMID: 21105877Free PMC Article
Toker L, Amar S, Bersudsky Y, Benjamin J, Klein E
Isr J Psychiatry Relat Sci 2010;47(1):46-55. PMID: 20686199
Duncan JR, Paterson DS, Hoffman JM, Mokler DJ, Borenstein NS, Belliveau RA, Krous HF, Haas EA, Stanley C, Nattie EE, Trachtenberg FL, Kinney HC
JAMA 2010 Feb 3;303(5):430-7. doi: 10.1001/jama.2010.45. PMID: 20124538Free PMC Article
Russo S, Kema IP, Bosker F, Haavik J, Korf J
World J Biol Psychiatry 2009;10(4):258-68. doi: 10.1080/15622970701513764. PMID: 19921967
Gutknecht L, Jacob C, Strobel A, Kriegebaum C, Müller J, Zeng Y, Markert C, Escher A, Wendland J, Reif A, Mössner R, Gross C, Brocke B, Lesch KP
Int J Neuropsychopharmacol 2007 Jun;10(3):309-20. Epub 2006 Dec 19 doi: 10.1017/S1461145706007437. [Epub ahead of print] PMID: 17176492

Therapy

Patrick RP, Ames BN
FASEB J 2014 Jun;28(6):2398-413. Epub 2014 Feb 20 doi: 10.1096/fj.13-246546. [Epub ahead of print] PMID: 24558199
Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW
Metabolism 2014 Jan;63(1):42-9. Epub 2013 Oct 18 doi: 10.1016/j.metabol.2013.08.015. [Epub ahead of print] PMID: 24140098
Badawy AA
J Psychopharmacol 2013 Oct;27(10):878-93. Epub 2013 Jul 31 doi: 10.1177/0269881113499209. [Epub ahead of print] PMID: 23904410
Siesser WB, Sachs BD, Ramsey AJ, Sotnikova TD, Beaulieu JM, Zhang X, Caron MG, Gainetdinov RR
ACS Chem Neurosci 2013 Jan 16;4(1):84-8. Epub 2012 Oct 1 doi: 10.1021/cn300127h. PMID: 23336047Free PMC Article
Nakamura K, Sugawara Y, Sawabe K, Ohashi A, Tsurui H, Xiu Y, Ohtsuji M, Lin QS, Nishimura H, Hasegawa H, Hirose S
J Neurosci 2006 Jan 11;26(2):530-4. doi: 10.1523/JNEUROSCI.1835-05.2006. PMID: 16407550

Prognosis

Patrick RP, Ames BN
FASEB J 2014 Jun;28(6):2398-413. Epub 2014 Feb 20 doi: 10.1096/fj.13-246546. [Epub ahead of print] PMID: 24558199
Toker L, Amar S, Bersudsky Y, Benjamin J, Klein E
Isr J Psychiatry Relat Sci 2010;47(1):46-55. PMID: 20686199
Van Gool AR, Fekkes D, Kruit WH, Mulder PG, Ten Hagen TL, Bannink M, Maes M, Eggermont AM
Psychiatry Res 2003 Jul 15;119(1-2):125-32. PMID: 12860366
Rystedt E, Olin M, Seyama Y, Buchmann M, Berstad A, Eggertsen G, Björkhem I
J Intern Med 2002 Sep;252(3):259-64. PMID: 12270007
Reilly JG, McTavish SF, Young AH
J Psychopharmacol 1997;11(4):381-92. PMID: 9443529

Clinical prediction guides

Dzirasa K, Kumar S, Sachs BD, Caron MG, Nicolelis MA
J Neurosci 2013 Mar 6;33(10):4505-13. doi: 10.1523/JNEUROSCI.4891-12.2013. PMID: 23467366Free PMC Article
Jacobsen JP, Medvedev IO, Caron MG
Philos Trans R Soc Lond B Biol Sci 2012 Sep 5;367(1601):2444-59. doi: 10.1098/rstb.2012.0109. PMID: 22826344Free PMC Article
Rothman RB, Cadet JL, Dersch CM, McCoy MT, Lehrmann E, Becker KG, Bader M, Alenina N, Baumann MH
PLoS One 2011 Mar 25;6(3):e17735. doi: 10.1371/journal.pone.0017735. PMID: 21464983Free PMC Article
Kuhn DM, Sykes CE, Geddes TJ, Jaunarajs KL, Bishop C
J Neurochem 2011 Feb;116(3):426-37. Epub 2010 Dec 13 doi: 10.1111/j.1471-4159.2010.07123.x. [Epub ahead of print] PMID: 21105877Free PMC Article
Nakamura K, Sugawara Y, Sawabe K, Ohashi A, Tsurui H, Xiu Y, Ohtsuji M, Lin QS, Nishimura H, Hasegawa H, Hirose S
J Neurosci 2006 Jan 11;26(2):530-4. doi: 10.1523/JNEUROSCI.1835-05.2006. PMID: 16407550

Recent systematic reviews

Kim YM, Kang M, Choi JH, Lee BH, Kim GH, Ohn JH, Kim SY, Park MS, Yoo HW
Metabolism 2014 Jan;63(1):42-9. Epub 2013 Oct 18 doi: 10.1016/j.metabol.2013.08.015. [Epub ahead of print] PMID: 24140098

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