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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).
See: Condition Record
Hydroxyacyl glutathione hydrolase deficiency
MedGen UID:
481287
•Concept ID:
C3279657
•
Disease or Syndrome
See: Condition Record
Glutathione synthetase deficiency without 5-oxoprolinuria
Hydroxyacyl glutathione hydrolase deficiency

Professional guidelines

PubMed

Extended MHC haplotypes in 21-hydroxylase-deficiency congenital adrenal hyperplasia: shared genotypes in unrelated patients.
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
Technical and theoretical considerations in the HLA typing of amniotic fluid cells for prenatal diagnosis and paternity testing.
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

Attenuation of albumin glycation and oxidative stress by minerals and vitamins: An in vitro perspective of dual-purpose therapy.
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
Dicarbonyl stress in clinical obesity.
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
Glyoxalase phenotypes in patients with diabetes mellitus.
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
Genetic mapping of the 21-hydroxylase-deficiency gene within the HLA linkage group.
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
Lack of linkage between gene(s) controlling the synthesis of the seventh component of complement and the HLA region on chromosome No. 6 in man.
Rittner C, Opferkuch W, Wellek B, Grosse-Wilde H, Wernet P
Hum Genet 1976 Oct 28;34(2):137-42. doi: 10.1007/BF00278881. PMID: 137203

Diagnosis

Fatty acid synthase cooperates with glyoxalase 1 to protect against sugar toxicity.
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
Mechanism-based competitive inhibitors of glyoxalase I: intracellular delivery, in vitro antitumor activities, and stabilities in human serum and mouse serum.
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
Identification of the structural gene for glyoxalase I from Saccharomyces cerevisiae.
Inoue Y, Kimura A
J Biol Chem 1996 Oct 18;271(42):25958-65. PMID: 8824231
Glyoxalase I activity in erythrocytes from severely malnourished children.
Ramdath DD, Golden MH
West Indian Med J 1995 Mar;44(1):24-7. PMID: 7793109
Technical and theoretical considerations in the HLA typing of amniotic fluid cells for prenatal diagnosis and paternity testing.
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

Fatty acid synthase cooperates with glyoxalase 1 to protect against sugar toxicity.
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
GSH protects against oxidative stress and toxicity in VL-17A cells exposed to high glucose.
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
Protein glycation: a firm link to endothelial cell dysfunction.
Wautier JL, Schmidt AM
Circ Res 2004 Aug 6;95(3):233-8. doi: 10.1161/01.RES.0000137876.28454.64. PMID: 15297385
Pharmacokinetics and antitumor properties in tumor-bearing mice of an enediol analogue inhibitor of glyoxalase I.
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
Glyoxalase phenotypes in patients with diabetes mellitus.
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

Heterozygotes and cryptic patients in families of patients with congenital adrenal hyperplasia (21-hydroxylase deficiency). HLA and glyoxalase I typing and hormonal studies.
Petersen KE, Svejgaard A, Nielsen MD, Dissing J
Horm Res 1982;16(3):151-9. doi: 10.1159/000179496. PMID: 6286442

Clinical prediction guides

Deficiency of Parkinson's Related Protein DJ-1 Alters Cdk5 Signalling and Induces Neuronal Death by Aberrant Cell Cycle Re-entry.
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
Combined glyoxalase 1 dysfunction and vitamin B6 deficiency in a schizophrenia model system causes mitochondrial dysfunction in the prefrontal cortex.
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
The LEGSKO mouse: a mouse model of age-related nuclear cataract based on genetic suppression of lens glutathione synthesis.
Fan X, Liu X, Hao S, Wang B, Robinson ML, Monnier VM
PLoS One 2012;7(11):e50832. Epub 2012 Nov 30 doi: 10.1371/journal.pone.0050832. PMID: 23226398Free PMC Article
Glyoxalase II, a detoxifying enzyme of glycolysis byproduct methylglyoxal and a target of p63 and p73, is a pro-survival factor of the p53 family.
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
A genetic study among the Lepchas of the Darjeeling area of eastern India.
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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