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Disorder of tyrosine metabolism

MedGen UID:
541330
Concept ID:
C0268482
Disease or Syndrome
Synonyms: disorder of tyrosine metabolism; Disturbance of tyrosine metabolism
SNOMED CT: Disorder of tyrosine metabolism (37200009); Disturbance of tyrosine metabolism (37200009)
 
Monarch Initiative: MONDO:0017307
Orphanet: ORPHA284818

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDisorder of tyrosine metabolism

Professional guidelines

PubMed

Bartlett DC, Lloyd C, McKiernan PJ, Newsome PN
J Inherit Metab Dis 2014 Sep;37(5):745-52. Epub 2014 Feb 11 doi: 10.1007/s10545-014-9683-x. PMID: 24515874

Recent clinical studies

Etiology

Thimmapuram R, Bandettini WP, Shanbhag SM, Yu JH, O'Brien KJ, Gahl WA, Introne WJ, Chen MY
Mol Genet Metab 2020 Aug;130(4):289-296. Epub 2020 May 18 doi: 10.1016/j.ymgme.2020.05.006. PMID: 32466960
Bartlett DC, Lloyd C, McKiernan PJ, Newsome PN
J Inherit Metab Dis 2014 Sep;37(5):745-52. Epub 2014 Feb 11 doi: 10.1007/s10545-014-9683-x. PMID: 24515874
Aquaron R
Indian J Biochem Biophys 2013 Oct;50(5):339-44. PMID: 24772955
Thakur S, Markman P, Cullen H
Heart Lung Circ 2013 Oct;22(10):870-2. Epub 2013 Jan 26 doi: 10.1016/j.hlc.2012.12.015. PMID: 23357094
Arora N, Stumper O, Wright J, Kelly DA, McKiernan PJ
J Inherit Metab Dis 2006 Feb;29(1):54-7. doi: 10.1007/s10545-006-0203-5. PMID: 16601868

Diagnosis

Thimmapuram R, Bandettini WP, Shanbhag SM, Yu JH, O'Brien KJ, Gahl WA, Introne WJ, Chen MY
Mol Genet Metab 2020 Aug;130(4):289-296. Epub 2020 May 18 doi: 10.1016/j.ymgme.2020.05.006. PMID: 32466960
Cruz-Camino H, Vazquez-Cantu DL, Zea-Rey AV, López-Valdez J, Jiménez-Lozano J, Gómez-Gutiérrez R, Cantú-Reyna C
J Int Med Res 2020 Feb;48(2):300060519863543. Epub 2019 Jul 25 doi: 10.1177/0300060519863543. PMID: 31342835Free PMC Article
Singh O, Muthukrishna Pandian R, Sudhakar Kekre N
Urology 2017 Feb;100:e3-e4. Epub 2016 Nov 2 doi: 10.1016/j.urology.2016.09.035. PMID: 27816602
Hughes AT, Milan AM, Christensen P, Ross G, Davison AS, Gallagher JA, Dutton JJ, Ranganath LR
J Chromatogr B Analyt Technol Biomed Life Sci 2014 Jul 15;963:106-12. Epub 2014 Jun 7 doi: 10.1016/j.jchromb.2014.06.002. PMID: 24952314
Steger CM
BMJ Case Rep 2011 Jul 28;2011 doi: 10.1136/bcr.04.2011.4119. PMID: 22689837Free PMC Article

Therapy

Zöggeler T, Ramoser G, Höller A, Jörg-Streller M, Janzen N, Ramoni A, Scholl-Bürgi S, Karall D
J Pediatr Endocrinol Metab 2022 Feb 23;35(2):259-265. Epub 2021 Sep 10 doi: 10.1515/jpem-2021-0465. PMID: 34506697
Gomez-Ospina N, Scott AI, Oh GJ, Potter D, Goel VV, Destino L, Baugh N, Enns GM, Niemi AK, Cowan TM
J Inherit Metab Dis 2016 Nov;39(6):821-829. Epub 2016 Aug 3 doi: 10.1007/s10545-016-9963-8. PMID: 27488560
Davison AS, Milan AM, Gallagher JA, Ranganath LR
J Inherit Metab Dis 2016 Mar;39(2):203-10. Epub 2015 Nov 23 doi: 10.1007/s10545-015-9902-0. PMID: 26596578
Gertsman I, Gangoiti JA, Nyhan WL, Barshop BA
Mol Genet Metab 2015 Mar;114(3):431-7. Epub 2015 Jan 29 doi: 10.1016/j.ymgme.2015.01.005. PMID: 25680927
Arora N, Stumper O, Wright J, Kelly DA, McKiernan PJ
J Inherit Metab Dis 2006 Feb;29(1):54-7. doi: 10.1007/s10545-006-0203-5. PMID: 16601868

Prognosis

Rokaitė R, Čibirkaitė A, Zeleckytė V, Lazdinytė G, Dženkaitis M
Medicina (Kaunas) 2024 Jan 11;60(1) doi: 10.3390/medicina60010135. PMID: 38256395Free PMC Article
Thimmapuram R, Bandettini WP, Shanbhag SM, Yu JH, O'Brien KJ, Gahl WA, Introne WJ, Chen MY
Mol Genet Metab 2020 Aug;130(4):289-296. Epub 2020 May 18 doi: 10.1016/j.ymgme.2020.05.006. PMID: 32466960
Dubois J, Garel L, Patriquin H, Paradis K, Forget S, Filiatrault D, Grignon A, Russo P, St-Vil D
Pediatr Radiol 1996 Dec;26(12):845-51. doi: 10.1007/BF03178035. PMID: 8929295

Clinical prediction guides

Thimmapuram R, Bandettini WP, Shanbhag SM, Yu JH, O'Brien KJ, Gahl WA, Introne WJ, Chen MY
Mol Genet Metab 2020 Aug;130(4):289-296. Epub 2020 May 18 doi: 10.1016/j.ymgme.2020.05.006. PMID: 32466960
Taylor AM, Jenks DD, Kammath VD, Norman BP, Dillon JP, Gallagher JA, Ranganath LR, Kerns JG
Osteoarthritis Cartilage 2019 Aug;27(8):1244-1251. Epub 2019 Apr 22 doi: 10.1016/j.joca.2019.04.012. PMID: 31022456
Davison AS, Milan AM, Gallagher JA, Ranganath LR
J Inherit Metab Dis 2016 Mar;39(2):203-10. Epub 2015 Nov 23 doi: 10.1007/s10545-015-9902-0. PMID: 26596578
Hughes AT, Milan AM, Christensen P, Ross G, Davison AS, Gallagher JA, Dutton JJ, Ranganath LR
J Chromatogr B Analyt Technol Biomed Life Sci 2014 Jul 15;963:106-12. Epub 2014 Jun 7 doi: 10.1016/j.jchromb.2014.06.002. PMID: 24952314
Taylor AM, Boyde A, Wilson PJ, Jarvis JC, Davidson JS, Hunt JA, Ranganath LR, Gallagher JA
Arthritis Rheum 2011 Dec;63(12):3887-96. doi: 10.1002/art.30606. PMID: 22127706

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