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Deficiency of reductase

MedGen UID:
713626
Concept ID:
C1291316
Disease or Syndrome
Synonym: Reductase Deficiency
SNOMED CT: Deficiency of reductase (124236005)

Definition

A deficiency in an enzyme that promotes reduction of an organic compound. [from NCI]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDeficiency of reductase

Recent clinical studies

Etiology

Martínez-Reyes I, Cardona LR, Kong H, Vasan K, McElroy GS, Werner M, Kihshen H, Reczek CR, Weinberg SE, Gao P, Steinert EM, Piseaux R, Budinger GRS, Chandel NS
Nature 2020 Sep;585(7824):288-292. Epub 2020 Jul 8 doi: 10.1038/s41586-020-2475-6. PMID: 32641834Free PMC Article
Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER
Curr Med Chem 2019;26(16):2948-2961. doi: 10.2174/0929867325666180313105949. PMID: 29532755
Donnelly JG
Crit Rev Clin Lab Sci 2001 Jun;38(3):183-223. doi: 10.1080/20014091084209. PMID: 11451208
Selhub J
Annu Rev Nutr 1999;19:217-46. doi: 10.1146/annurev.nutr.19.1.217. PMID: 10448523
DiMauro S, Bonilla E, Zeviani M, Servidei S, DeVivo DC, Schon EA
J Inherit Metab Dis 1987;10 Suppl 1:113-28. doi: 10.1007/BF01812852. PMID: 2824920

Diagnosis

Yverneau M, Leroux S, Imbard A, Gleich F, Arion A, Moreau C, Nassogne MC, Szymanowski M, Tardieu M, Touati G, Bueno M, Chapman KA, Chien YH, Huemer M, Ješina P, Janssen MCH, Kölker S, Kožich V, Lavigne C, Lund AM, Mochel F, Morris A, Pons MR, Porras-Hurtado GL, Benoist JF, Damaj L, Schiff M; E-HOD Consortium
J Inherit Metab Dis 2022 Jul;45(4):848-861. Epub 2022 May 9 doi: 10.1002/jimd.12504. PMID: 35460084
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P
J Inherit Metab Dis 2018 Jan;41(1):101-108. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0089-4. PMID: 28980090
Pearl PL
Handb Clin Neurol 2013;113:1819-25. doi: 10.1016/B978-0-444-59565-2.00051-4. PMID: 23622404
Hoppe B, Beck BB, Milliner DS
Kidney Int 2009 Jun;75(12):1264-1271. Epub 2009 Feb 18 doi: 10.1038/ki.2009.32. PMID: 19225556Free PMC Article
DiMauro S, Moraes CT
Arch Neurol 1993 Nov;50(11):1197-208. doi: 10.1001/archneur.1993.00540110075008. PMID: 8215979

Therapy

Glossmann HH, Lutz OMD
Gerontology 2019;65(6):581-590. Epub 2019 Sep 13 doi: 10.1159/000502257. PMID: 31522175
Zaric BL, Obradovic M, Bajic V, Haidara MA, Jovanovic M, Isenovic ER
Curr Med Chem 2019;26(16):2948-2961. doi: 10.2174/0929867325666180313105949. PMID: 29532755
Mitchell JJ, Trakadis YJ, Scriver CR
Genet Med 2011 Aug;13(8):697-707. doi: 10.1097/GIM.0b013e3182141b48. PMID: 21555948
Alexander J
Novartis Found Symp 2007;282:143-9; discussion 149-53, 212-8. PMID: 17913229
Perry DJ
Baillieres Best Pract Res Clin Haematol 1999 Sep;12(3):451-77. doi: 10.1053/beha.1999.0036. PMID: 10856981

Clinical prediction guides

Zhou E, Ge X, Nakashima H, Li R, van der Zande HJP, Liu C, Li Z, Müller C, Bracher F, Mohammed Y, de Boer JF, Kuipers F, Guigas B, Glass CK, Rensen PCN, Giera M, Wang Y
EMBO Mol Med 2023 Aug 7;15(8):e16845. Epub 2023 Jun 26 doi: 10.15252/emmm.202216845. PMID: 37357756Free PMC Article
Weile J, Kishore N, Sun S, Maaieh R, Verby M, Li R, Fotiadou I, Kitaygorodsky J, Wu Y, Holenstein A, Bürer C, Blomgren L, Yang S, Nussbaum R, Rozen R, Watkins D, Gebbia M, Kozich V, Garton M, Froese DS, Roth FP
Am J Hum Genet 2021 Jul 1;108(7):1283-1300. doi: 10.1016/j.ajhg.2021.05.009. PMID: 34214447Free PMC Article
Collins CJ, Yi F, Dayuha R, Duong P, Horslen S, Camarata M, Coskun AK, Houwen RHJ, Pop TL, Zoller H, Yoo HW, Jung SW, Weiss KH, Schilsky ML, Ferenci P, Hahn SH
Gastroenterology 2021 Jun;160(7):2367-2382.e1. Epub 2021 Feb 25 doi: 10.1053/j.gastro.2021.02.052. PMID: 33640437Free PMC Article
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P
J Inherit Metab Dis 2018 Jan;41(1):101-108. Epub 2017 Oct 4 doi: 10.1007/s10545-017-0089-4. PMID: 28980090
Anke M, Groppel B, Kronemann H, Grün M
IARC Sci Publ 1984;(53):339-65. PMID: 6398286

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