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Reduced tissue UDP-glucuronyl-transferase activity

MedGen UID:
1053323
Concept ID:
CN377449
Finding
Synonyms: Reduced liver uridine diphosphate glucuronosyltransferase activity; Reduced tissue uridine diphosphate glucuronosyltransferase activity
 
HPO: HP:6000617

Definition

Concentration or activity of uridine diphosphate glucuronosyltransferase below the lower limit of normal. The activity of this enzyme can be measured in liver and rarely in other tissues. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVReduced tissue UDP-glucuronyl-transferase activity

Conditions with this feature

Crigler-Najjar syndrome, type II
MedGen UID:
419718
Concept ID:
C2931132
Disease or Syndrome
The hereditary hyperbilirubinemias include (1) those resulting in predominantly unconjugated hyperbilirubinemia: Gilbert or Arias syndrome, Crigler-Najjar syndrome type I, and Crigler-Najjar syndrome type II; and (2) those resulting in predominantly conjugated hyperbilirubinemia: Dubin-Johnson syndrome (237500), Rotor syndrome (237450), and several forms of intrahepatic cholestasis (147480, 211600, 214950, 243300) (Wolkoff et al., 1983). Detailed studies show that patients with Crigler-Najjar syndrome type II have reduced activity of bilirubin glucuronosyltransferase (Labrune et al., 1989, Seppen et al., 1994).

Professional guidelines

PubMed

Flynn AF, Joyce MG, Taylor RT, Bennuru S, Lindrose AR, Sterling SL, Morris CP, Nutman TB, Mitre E
PLoS Negl Trop Dis 2019 Sep;13(9):e0007687. Epub 2019 Sep 12 doi: 10.1371/journal.pntd.0007687. PMID: 31513587Free PMC Article
Li WH, Wong HK, Serrano J, Randhawa M, Kaur S, Southall MD, Parsa R
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Recent clinical studies

Etiology

Whyte-Allman SK, Hoque MT, Gilmore JC, Kaul R, Routy JP, Bendayan R; Orchid Study Group
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Z Gastroenterol 2002 Jul;40(7):497-502. doi: 10.1055/s-2002-32805. PMID: 12122597

Diagnosis

Sun G, Zhao S, Fan Z, Wang Y, Liu H, Cao H, Sun G, Huang T, Cai H, Pan H, Rong D, Gao Y, Tang W
J Exp Clin Cancer Res 2023 Sep 25;42(1):248. doi: 10.1186/s13046-023-02803-0. PMID: 37749638Free PMC Article
Zhan H, Zhang S, Li L, Chen Z, Cai Y, Huang J, Wu D, Huang B, Wu B, Liu X
J Steroid Biochem Mol Biol 2022 Jul;221:106117. Epub 2022 Apr 30 doi: 10.1016/j.jsbmb.2022.106117. PMID: 35504423
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Therapy

Zhan H, Zhang S, Li L, Chen Z, Cai Y, Huang J, Wu D, Huang B, Wu B, Liu X
J Steroid Biochem Mol Biol 2022 Jul;221:106117. Epub 2022 Apr 30 doi: 10.1016/j.jsbmb.2022.106117. PMID: 35504423
Zhang Y, Zhang M, Hu G, Zhang Z, Song R
J Ethnopharmacol 2020 Mar 25;250:112528. Epub 2019 Dec 26 doi: 10.1016/j.jep.2019.112528. PMID: 31884038
Dupuis R, Yuen A, Innocenti F
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Li Y, Theuretzbacher U, Clancy CJ, Nguyen MH, Derendorf H
Clin Pharmacokinet 2010 Jun;49(6):379-96. doi: 10.2165/11319340-000000000-00000. PMID: 20481649
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J Invest Dermatol 2010 Jan;130(1):141-9. doi: 10.1038/jid.2009.210. PMID: 19609316

Prognosis

Sun G, Zhao S, Fan Z, Wang Y, Liu H, Cao H, Sun G, Huang T, Cai H, Pan H, Rong D, Gao Y, Tang W
J Exp Clin Cancer Res 2023 Sep 25;42(1):248. doi: 10.1186/s13046-023-02803-0. PMID: 37749638Free PMC Article
Gauthier-Landry L, Bélanger A, Barbier O
J Steroid Biochem Mol Biol 2015 Jan;145:187-92. Epub 2014 May 23 doi: 10.1016/j.jsbmb.2014.05.009. PMID: 24861263
Li Y, Theuretzbacher U, Clancy CJ, Nguyen MH, Derendorf H
Clin Pharmacokinet 2010 Jun;49(6):379-96. doi: 10.2165/11319340-000000000-00000. PMID: 20481649
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J Natl Cancer Inst 2001 Sep 19;93(18):1411-8. doi: 10.1093/jnci/93.18.1411. PMID: 11562393

Clinical prediction guides

Mennillo E, Yang X, Weber AA, Maruo Y, Verreault M, Barbier O, Chen S, Tukey RH
Drug Metab Dispos 2022 Jan;50(1):33-42. Epub 2021 Oct 25 doi: 10.1124/dmd.121.000644. PMID: 34697081Free PMC Article
Flynn AF, Joyce MG, Taylor RT, Bennuru S, Lindrose AR, Sterling SL, Morris CP, Nutman TB, Mitre E
PLoS Negl Trop Dis 2019 Sep;13(9):e0007687. Epub 2019 Sep 12 doi: 10.1371/journal.pntd.0007687. PMID: 31513587Free PMC Article
Sutliff AK, Watson CJW, Chen G, Lazarus P
J Pharmacol Exp Ther 2019 May;369(2):234-243. Epub 2019 Mar 8 doi: 10.1124/jpet.118.255935. PMID: 30850392Free PMC Article
Margaillan G, Rouleau M, Fallon JK, Caron P, Villeneuve L, Turcotte V, Smith PC, Joy MS, Guillemette C
Drug Metab Dispos 2015 Apr;43(4):611-9. Epub 2015 Feb 3 doi: 10.1124/dmd.114.062877. PMID: 25650382Free PMC Article
Li Y, Theuretzbacher U, Clancy CJ, Nguyen MH, Derendorf H
Clin Pharmacokinet 2010 Jun;49(6):379-96. doi: 10.2165/11319340-000000000-00000. PMID: 20481649

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