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Glyoxalase deficiency

MedGen UID:
481288
Concept ID:
C3279658
Finding
HPO: HP:0003258

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVGlyoxalase deficiency

Conditions with this feature

Glutathione synthetase deficiency without 5-oxoprolinuria
MedGen UID:
343541
Concept ID:
C1856399
Disease or Syndrome
Two forms of glutathione synthetase deficiency have been described: a mild form, here referred to as congenital nonspherocytic hemolytic anemia-6 (CNSHA6), and a more severe form causing 5-oxoprolinuria with secondary neurologic involvement (266130).
Hydroxyacyl glutathione hydrolase deficiency
MedGen UID:
481287
Concept ID:
C3279657
Disease or Syndrome

Professional guidelines

PubMed

Fleischnick E, Awdeh ZL, Raum D, Granados J, Alosco SM, Crigler JF Jr, Gerald PS, Giles CM, Yunis EJ, Alper CA
Lancet 1983 Jan 22;1(8317):152-6. doi: 10.1016/s0140-6736(83)92757-5. PMID: 6130199
Pollack MS, Heagney SD, Braun D Jr, O'Neill GJ
Prenat Diagn 1981 Jul;1(3):183-95. doi: 10.1002/pd.1970010304. PMID: 6981107

Recent clinical studies

Etiology

Jagdale AD, Patil RS, Tupe RS
Vitam Horm 2024;125:231-250. Epub 2024 Mar 6 doi: 10.1016/bs.vh.2023.12.003. PMID: 38997165
Masania J, Malczewska-Malec M, Razny U, Goralska J, Zdzienicka A, Kiec-Wilk B, Gruca A, Stancel-Mozwillo J, Dembinska-Kiec A, Rabbani N, Thornalley PJ
Glycoconj J 2016 Aug;33(4):581-9. Epub 2016 Jun 24 doi: 10.1007/s10719-016-9692-0. PMID: 27338619Free PMC Article
Garrido D, Rubin T, Poidevin M, Maroni B, Le Rouzic A, Parvy JP, Montagne J
PLoS Genet 2015 Feb;11(2):e1004995. Epub 2015 Feb 18 doi: 10.1371/journal.pgen.1004995. PMID: 25692475Free PMC Article
McCann VJ, Davis RE, Welborn TA, Constable IJ, Beale DG
Aust N Z J Med 1981 Aug;11(4):380-2. doi: 10.1111/j.1445-5994.1981.tb03516.x. PMID: 7030293
Levine LS, Zachmann M, New MI, Prader A, Pollack MS, O'Neill GJ, Yang SY, Oberfield SE, Dupont B
N Engl J Med 1978 Oct 26;299(17):911-5. doi: 10.1056/NEJM197810262991702. PMID: 692595

Diagnosis

Garrido D, Rubin T, Poidevin M, Maroni B, Le Rouzic A, Parvy JP, Montagne J
PLoS Genet 2015 Feb;11(2):e1004995. Epub 2015 Feb 18 doi: 10.1371/journal.pgen.1004995. PMID: 25692475Free PMC Article
Kavarana MJ, Kovaleva EG, Creighton DJ, Wollman MB, Eiseman JL
J Med Chem 1999 Jan 28;42(2):221-8. doi: 10.1021/jm9708036. PMID: 9925727
Inoue Y, Kimura A
J Biol Chem 1996 Oct 18;271(42):25958-65. PMID: 8824231
Ramdath DD, Golden MH
West Indian Med J 1995 Mar;44(1):24-7. PMID: 7793109
Pollack MS, Heagney SD, Braun D Jr, O'Neill GJ
Prenat Diagn 1981 Jul;1(3):183-95. doi: 10.1002/pd.1970010304. PMID: 6981107

Therapy

Garrido D, Rubin T, Poidevin M, Maroni B, Le Rouzic A, Parvy JP, Montagne J
PLoS Genet 2015 Feb;11(2):e1004995. Epub 2015 Feb 18 doi: 10.1371/journal.pgen.1004995. PMID: 25692475Free PMC Article
Kumar SM, Swaminathan K, Clemens DL, Dey A
Eur J Nutr 2015 Mar;54(2):223-34. Epub 2014 Apr 23 doi: 10.1007/s00394-014-0703-2. PMID: 24756473
Wautier JL, Schmidt AM
Circ Res 2004 Aug 6;95(3):233-8. doi: 10.1161/01.RES.0000137876.28454.64. PMID: 15297385
Sharkey EM, O'Neill HB, Kavarana MJ, Wang H, Creighton DJ, Sentz DL, Eiseman JL
Cancer Chemother Pharmacol 2000;46(2):156-66. doi: 10.1007/s002800000130. PMID: 10972486
McCann VJ, Davis RE, Welborn TA, Constable IJ, Beale DG
Aust N Z J Med 1981 Aug;11(4):380-2. doi: 10.1111/j.1445-5994.1981.tb03516.x. PMID: 7030293

Prognosis

Petersen KE, Svejgaard A, Nielsen MD, Dissing J
Horm Res 1982;16(3):151-9. doi: 10.1159/000179496. PMID: 6286442

Clinical prediction guides

López-Grueso MJ, Padilla CA, Bárcena JA, Requejo-Aguilar R
Cell Mol Neurobiol 2023 Mar;43(2):757-769. Epub 2022 Feb 19 doi: 10.1007/s10571-022-01206-7. PMID: 35182267Free PMC Article
Toriumi K, Berto S, Koike S, Usui N, Dan T, Suzuki K, Miyashita M, Horiuchi Y, Yoshikawa A, Asakura M, Nagahama K, Lin HC, Sugaya Y, Watanabe T, Kano M, Ogasawara Y, Miyata T, Itokawa M, Konopka G, Arai M
Redox Biol 2021 Sep;45:102057. Epub 2021 Jun 24 doi: 10.1016/j.redox.2021.102057. PMID: 34198071Free PMC Article
Garrido D, Rubin T, Poidevin M, Maroni B, Le Rouzic A, Parvy JP, Montagne J
PLoS Genet 2015 Feb;11(2):e1004995. Epub 2015 Feb 18 doi: 10.1371/journal.pgen.1004995. PMID: 25692475Free PMC Article
Xu Y, Chen X
J Biol Chem 2006 Sep 8;281(36):26702-13. Epub 2006 Jul 10 doi: 10.1074/jbc.M604758200. PMID: 16831876
Saha N, Bhattacharyya SP, Mukhopadhyay B, Bhattacharyya SK, Gupta R, Basu A
Hum Hered 1987;37(2):113-21. doi: 10.1159/000153686. PMID: 2953665

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