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Tryptophan 5-monooxygenase deficiency

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

Professional guidelines

PubMed

HTR1A, TPH2, and 5-HTTLPR Polymorphisms and Their Impact on the Severity of Depressive Symptoms and on the Concentration of Tryptophan Catabolites during Hepatitis C Treatment with Pegylated Interferon-α2a and Oral Ribavirin (PEG-IFN-α2a/RBV).
Pawlowski T, Malyszczak K, Pawlak D, Inglot M, Zalewska M, Grzywacz A, Radkowski M, Laskus T, Janocha-Litwin J, Frydecka D
Cells 2023 Mar 22;12(6) doi: 10.3390/cells12060970. PMID: 36980311Free PMC Article
Pathogenic variants of DNAJC12 and evaluation of the encoded cochaperone as a genetic modifier of hyperphenylalaninemia.
Gallego D, Leal F, Gámez A, Castro M, Navarrete R, Sanchez-Lijarcio O, Vitoria I, Bueno-Delgado M, Belanger-Quintana A, Morais A, Pedrón-Giner C, García I, Campistol J, Artuch R, Alcaide C, Cornejo V, Gil D, Yahyaoui R, Desviat LR, Ugarte M, Martínez A, Pérez B
Hum Mutat 2020 Jul;41(7):1329-1338. Epub 2020 Apr 30 doi: 10.1002/humu.24026. PMID: 32333439
Phenylketonuria: screening, treatment and maternal PKU.
Matalon R, Michals K
Clin Biochem 1991 Aug;24(4):337-42. doi: 10.1016/0009-9120(91)80008-q. PMID: 1959225

Recent clinical studies

Etiology

Transient brain structure changes after high phenylalanine exposure in adults with phenylketonuria.
Muri R, Rummel C, McKinley R, Rebsamen M, Maissen-Abgottspon S, Kreis R, Radojewski P, Pospieszny K, Hochuli M, Wiest R, Trepp R, Everts R
Brain 2024 Nov 4;147(11):3863-3873. doi: 10.1093/brain/awae139. PMID: 38723047Free PMC Article
HTR1A, TPH2, and 5-HTTLPR Polymorphisms and Their Impact on the Severity of Depressive Symptoms and on the Concentration of Tryptophan Catabolites during Hepatitis C Treatment with Pegylated Interferon-α2a and Oral Ribavirin (PEG-IFN-α2a/RBV).
Pawlowski T, Malyszczak K, Pawlak D, Inglot M, Zalewska M, Grzywacz A, Radkowski M, Laskus T, Janocha-Litwin J, Frydecka D
Cells 2023 Mar 22;12(6) doi: 10.3390/cells12060970. PMID: 36980311Free PMC Article
Tryptophan hydroxylase 2 in seasonal affective disorder: underestimated perspectives?
Kulikov AV, Popova NK
Rev Neurosci 2015;26(6):679-90. doi: 10.1515/revneuro-2015-0013. PMID: 26167977
No association between TPH2 gene polymorphisms and ADHD in a UK sample.
Sheehan K, Hawi Z, Gill M, Kent L
Neurosci Lett 2007 Jan 29;412(2):105-7. Epub 2006 Nov 22 doi: 10.1016/j.neulet.2006.10.043. PMID: 17123708
From genes to aggressive behavior: the role of serotonergic system.
Popova NK
Bioessays 2006 May;28(5):495-503. doi: 10.1002/bies.20412. PMID: 16615082

Diagnosis

Overview of the role of vitamins and minerals on the kynurenine pathway in health and disease.
Majewski M, Kozlowska A, Thoene M, Lepiarczyk E, Grzegorzewski WJ
J Physiol Pharmacol 2016 Feb;67(1):3-19. PMID: 27010891
The biology of tryptophan depletion and mood disorders.
Toker L, Amar S, Bersudsky Y, Benjamin J, Klein E
Isr J Psychiatry Relat Sci 2010;47(1):46-55. PMID: 20686199
Tryptophan as an evolutionarily conserved signal to brain serotonin: molecular evidence and psychiatric implications.
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
Disorders of biopterin metabolism.
Longo N
J Inherit Metab Dis 2009 Jun;32(3):333-42. Epub 2009 Feb 9 doi: 10.1007/s10545-009-1067-2. PMID: 19234759
Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters.
Rystedt E, Olin M, Seyama Y, Buchmann M, Berstad A, Eggertsen G, Björkhem I
J Intern Med 2002 Sep;252(3):259-64. doi: 10.1046/j.1365-2796.2002.01033.x. PMID: 12270007

Therapy

Overproduction of Gastrointestinal 5-HT Promotes Colitis-Associated Colorectal Cancer Progression via Enhancing NLRP3 Inflammasome Activation.
Li T, Fu B, Zhang X, Zhou Y, Yang M, Cao M, Chen Y, Tan Y, Hu R
Cancer Immunol Res 2021 Sep;9(9):1008-1023. Epub 2021 Jul 20 doi: 10.1158/2326-6066.CIR-20-1043. PMID: 34285037
Serotonin, hematopoiesis and stem cells.
Fouquet G, Coman T, Hermine O, Côté F
Pharmacol Res 2019 Feb;140:67-74. Epub 2018 Aug 11 doi: 10.1016/j.phrs.2018.08.005. PMID: 30107202
Serotonin signals through a gut-liver axis to regulate hepatic steatosis.
Choi W, Namkung J, Hwang I, Kim H, Lim A, Park HJ, Lee HW, Han KH, Park S, Jeong JS, Bang G, Kim YH, Yadav VK, Karsenty G, Ju YS, Choi C, Suh JM, Park JY, Park S, Kim H
Nat Commun 2018 Nov 16;9(1):4824. doi: 10.1038/s41467-018-07287-7. PMID: 30446669Free PMC Article
Vitamin D hormone regulates serotonin synthesis. Part 1: relevance for autism.
Patrick RP, Ames BN
FASEB J 2014 Jun;28(6):2398-413. Epub 2014 Feb 20 doi: 10.1096/fj.13-246546. PMID: 24558199
Cortical-amygdalar circuit dysfunction in a genetic mouse model of serotonin deficiency.
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

Prognosis

Interplay between the key proteins of serotonin system in SSRI antidepressants efficacy.
Kulikov AV, Gainetdinov RR, Ponimaskin E, Kalueff AV, Naumenko VS, Popova NK
Expert Opin Ther Targets 2018 Apr;22(4):319-330. Epub 2018 Apr 4 doi: 10.1080/14728222.2018.1452912. PMID: 29542343
Vitamin D hormone regulates serotonin synthesis. Part 1: relevance for autism.
Patrick RP, Ames BN
FASEB J 2014 Jun;28(6):2398-413. Epub 2014 Feb 20 doi: 10.1096/fj.13-246546. PMID: 24558199
The biology of tryptophan depletion and mood disorders.
Toker L, Amar S, Bersudsky Y, Benjamin J, Klein E
Isr J Psychiatry Relat Sci 2010;47(1):46-55. PMID: 20686199
CD8+ T cells against multiple tumor-associated antigens in peripheral blood of midgut carcinoid patients.
Vikman S, Giandomenico V, Sommaggio R, Oberg K, Essand M, Tötterman TH
Cancer Immunol Immunother 2008 Mar;57(3):399-409. Epub 2007 Aug 24 doi: 10.1007/s00262-007-0382-4. PMID: 17717663Free PMC Article
Cerebrotendinous xanthomatosis: molecular characterization of two Scandinavian sisters.
Rystedt E, Olin M, Seyama Y, Buchmann M, Berstad A, Eggertsen G, Björkhem I
J Intern Med 2002 Sep;252(3):259-64. doi: 10.1046/j.1365-2796.2002.01033.x. PMID: 12270007

Clinical prediction guides

Mast cell-derived BH4 and serotonin are critical mediators of postoperative pain.
Starkl P, Jonsson G, Artner T, Turnes BL, Gail LM, Oliveira T, Jain A, Serhan N, Stejskal K, Lakovits K, Hladik A, An M, Channon KM, Kim H, Köcher T, Weninger W, Stary G, Knapp S, Klang V, Gaudenzio N, Woolf CJ, Tikoo S, Jain R, Penninger JM, Cronin SJF
Sci Immunol 2024 Aug 23;9(98):eadh0545. doi: 10.1126/sciimmunol.adh0545. PMID: 39178277
PAH deficient pathology in humanized c.1066-11G>A phenylketonuria mice.
Martínez-Pizarro A, Picó S, López-Márquez A, Rodriguez-López C, Montalvo E, Alvarez M, Castro M, Ramón-Maiques S, Pérez B, Lucas JJ, Richard E, Desviat LR
Hum Mol Genet 2024 Jun 5;33(12):1074-1089. doi: 10.1093/hmg/ddae051. PMID: 38520741Free PMC Article
IL-2 regulates tumor-reactive CD8(+) T cell exhaustion by activating the aryl hydrocarbon receptor.
Liu Y, Zhou N, Zhou L, Wang J, Zhou Y, Zhang T, Fang Y, Deng J, Gao Y, Liang X, Lv J, Wang Z, Xie J, Xue Y, Zhang H, Ma J, Tang K, Fang Y, Cheng F, Zhang C, Dong B, Zhao Y, Yuan P, Gao Q, Zhang H, Xiao-Feng Qin F, Huang B
Nat Immunol 2021 Mar;22(3):358-369. Epub 2021 Jan 11 doi: 10.1038/s41590-020-00850-9. PMID: 33432230
Cortical-amygdalar circuit dysfunction in a genetic mouse model of serotonin deficiency.
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
Effect of indoleamine dioxygenase-1 deficiency and kynurenine pathway inhibition on murine cerebral malaria.
Miu J, Ball HJ, Mellor AL, Hunt NH
Int J Parasitol 2009 Feb;39(3):363-70. Epub 2008 Oct 25 doi: 10.1016/j.ijpara.2008.10.005. PMID: 19000912

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