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Inborn disorder of tryptophan metabolism

MedGen UID:
22506
Concept ID:
C0041254
Pathologic Function
Synonym: Tryptophan Metabolism Alterations
SNOMED CT: Disorder of tryptophan metabolism (5181007)
 
Monarch Initiative: MONDO:0017350
Orphanet: ORPHA289829

Definition

An inherited metabolic disease that is has its basis in the disruption of tryptophan metabolic process. [from MONDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVInborn disorder of tryptophan metabolism

Professional guidelines

PubMed

Bernstein L, Coughlin CR, Drumm M, Yannicelli S, Rohr F
Nutrients 2020 Oct 16;12(10) doi: 10.3390/nu12103162. PMID: 33081139Free PMC Article
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article
Shintaku H
Curr Drug Metab 2002 Apr;3(2):123-31. doi: 10.2174/1389200024605145. PMID: 12003346

Recent clinical studies

Etiology

Parolisi S, Montanari C, Borghi E, Cazzorla C, Zuvadelli J, Tosi M, Barone R, Bensi G, Bonfanti C, Dionisi Vici C, Biasucci G, Burlina A, Carbone MT, Verduci E; SIMMESN Working Group for Gut Microbiota in Inborn Errors of Metabolism
Pharmacol Res 2023 Nov;197:106952. Epub 2023 Oct 5 doi: 10.1016/j.phrs.2023.106952. PMID: 37804926
Almannai M, Felemban R, Saleh MA, Faqeih EA, Alasmari A, AlHashem A, Mohamed S, Sunbul R, Al-Murshedi F, AlThihli K, Eyaid W, Ali R, Ben-Omran T, Blau N, El-Hattab AW, Alfadhel M
Pediatr Neurol 2019 Jul;96:40-47. Epub 2019 Feb 18 doi: 10.1016/j.pediatrneurol.2019.02.008. PMID: 30926181
Hedlund GL, Longo N, Pasquali M
Am J Med Genet C Semin Med Genet 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088. PMID: 16602100Free PMC Article
Yannicelli S, Rohr F, Warman ML
J Am Diet Assoc 1994 Feb;94(2):183-8,191; quiz 189-90. doi: 10.1016/0002-8223(94)90245-3. PMID: 8300996
Ebadi M, Gessert CF, Al-Sayegh A
Q Rev Drug Metab Drug Interact 1982;4(4):289-331. doi: 10.1515/dmdi.1982.4.4.289. PMID: 6087425

Diagnosis

Whyte MP, Zhang F, Wenkert D, Mack KE, Bijanki VN, Ericson KL, Coburn SP
Bone 2022 Jan;154:116204. Epub 2021 Sep 20 doi: 10.1016/j.bone.2021.116204. PMID: 34547524
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article
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
Hedlund GL, Longo N, Pasquali M
Am J Med Genet C Semin Med Genet 2006 May 15;142C(2):86-94. doi: 10.1002/ajmg.c.30088. PMID: 16602100Free PMC Article
Shintaku H
Curr Drug Metab 2002 Apr;3(2):123-31. doi: 10.2174/1389200024605145. PMID: 12003346

Therapy

Bernstein L, Coughlin CR, Drumm M, Yannicelli S, Rohr F
Nutrients 2020 Oct 16;12(10) doi: 10.3390/nu12103162. PMID: 33081139Free PMC Article
Pavlova EV, Shatunov A, Wartosch L, Moskvina AI, Nikolaeva LE, Bright NA, Tylee KL, Church HJ, Ballabio A, Luzio JP, Cox TM
Hum Mol Genet 2019 Aug 1;28(15):2514-2530. doi: 10.1093/hmg/ddz077. PMID: 31070736Free PMC Article
Yannicelli S, Rohr F, Warman ML
J Am Diet Assoc 1994 Feb;94(2):183-8,191; quiz 189-90. doi: 10.1016/0002-8223(94)90245-3. PMID: 8300996
Shideler CE
Am J Med Technol 1983 Jan;49(1):17-22. PMID: 6342384
Komrower GM, Westall R
Am J Dis Child 1967 Jan;113(1):77-80. doi: 10.1001/archpedi.1967.02090160127016. PMID: 6015911

Prognosis

Pavlova EV, Shatunov A, Wartosch L, Moskvina AI, Nikolaeva LE, Bright NA, Tylee KL, Church HJ, Ballabio A, Luzio JP, Cox TM
Hum Mol Genet 2019 Aug 1;28(15):2514-2530. doi: 10.1093/hmg/ddz077. PMID: 31070736Free PMC Article
Hu L, Ibrahim K, Stucki M, Frapolli M, Shahbeck N, Chaudhry FA, Görg B, Häussinger D, Penberthy WT, Ben-Omran T, Häberle J
J Inherit Metab Dis 2015 Nov;38(6):1075-83. Epub 2015 Apr 21 doi: 10.1007/s10545-015-9846-4. PMID: 25896882
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article
Bachmann C
J Inherit Metab Dis 1992;15(4):578-91. doi: 10.1007/BF01799616. PMID: 1528018
Fischer MH, Brown RR
Am J Med Genet 1980;5(1):35-41. doi: 10.1002/ajmg.1320050106. PMID: 6772026

Clinical prediction guides

Parolisi S, Montanari C, Borghi E, Cazzorla C, Zuvadelli J, Tosi M, Barone R, Bensi G, Bonfanti C, Dionisi Vici C, Biasucci G, Burlina A, Carbone MT, Verduci E; SIMMESN Working Group for Gut Microbiota in Inborn Errors of Metabolism
Pharmacol Res 2023 Nov;197:106952. Epub 2023 Oct 5 doi: 10.1016/j.phrs.2023.106952. PMID: 37804926
Moschetti A, Vine LN, Lethcoe K, Dagda RK, Ellison P, Ryan RO
Lipids 2020 Mar;55(2):141-149. Epub 2020 Feb 19 doi: 10.1002/lipd.12218. PMID: 32074388Free PMC Article
Almannai M, Felemban R, Saleh MA, Faqeih EA, Alasmari A, AlHashem A, Mohamed S, Sunbul R, Al-Murshedi F, AlThihli K, Eyaid W, Ali R, Ben-Omran T, Blau N, El-Hattab AW, Alfadhel M
Pediatr Neurol 2019 Jul;96:40-47. Epub 2019 Feb 18 doi: 10.1016/j.pediatrneurol.2019.02.008. PMID: 30926181
Kölker S, Christensen E, Leonard JV, Greenberg CR, Boneh A, Burlina AB, Burlina AP, Dixon M, Duran M, García Cazorla A, Goodman SI, Koeller DM, Kyllerman M, Mühlhausen C, Müller E, Okun JG, Wilcken B, Hoffmann GF, Burgard P
J Inherit Metab Dis 2011 Jun;34(3):677-94. Epub 2011 Mar 23 doi: 10.1007/s10545-011-9289-5. PMID: 21431622Free PMC Article
Bachmann C
J Inherit Metab Dis 1992;15(4):578-91. doi: 10.1007/BF01799616. PMID: 1528018

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