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Decreased glucosephosphate isomerase level

MedGen UID:
1713065
Concept ID:
C5235039
Finding
Synonym: Decreased glucosephosphate isomerase activity
 
HPO: HP:0003568

Definition

A decreased level of glucose-6-phosphate isomerase. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • Decreased glucosephosphate isomerase level

Conditions with this feature

Hemolytic anemia due to glucophosphate isomerase deficiency
MedGen UID:
462080
Concept ID:
C3150730
Disease or Syndrome
Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues. People with this disorder have a condition known as chronic hemolytic anemia, in which red blood cells are broken down (undergo hemolysis) prematurely, resulting in a shortage of red blood cells (anemia). Chronic hemolytic anemia can lead to unusually pale skin (pallor), yellowing of the eyes and skin (jaundice), extreme tiredness (fatigue), shortness of breath (dyspnea), and a rapid heart rate (tachycardia). An enlarged spleen (splenomegaly), an excess of iron in the blood, and small pebble-like deposits in the gallbladder or bile ducts (gallstones) may also occur in this disorder.\n\nHemolytic anemia in GPI deficiency can range from mild to severe. In the most severe cases, affected individuals do not survive to birth. Individuals with milder disease can survive into adulthood. People with any level of severity of the disorder can have episodes of more severe hemolysis, called hemolytic crises, which can be triggered by bacterial or viral infections.\n\nA small percentage of individuals with GPI deficiency also have neurological problems, including intellectual disability and difficulty with coordinating movements (ataxia).

Recent clinical studies

Etiology

Zong M, Lu T, Fan S, Zhang H, Gong R, Sun L, Fu Z, Fan L
Arthritis Res Ther 2015 Apr 14;17(1):100. doi: 10.1186/s13075-015-0619-0. PMID: 25889507Free PMC Article
Huang Q, Aluise CD, Joshi G, Sultana R, St Clair DK, Markesbery WR, Butterfield DA
J Neurosci Res 2010 Sep;88(12):2618-29. doi: 10.1002/jnr.22422. PMID: 20648652
Shan Y, Lambrecht RW, Donohue SE, Bonkovsky HL
FASEB J 2006 Dec;20(14):2651-3. Epub 2006 Oct 25 doi: 10.1096/fj.06-6346fje. PMID: 17065227
Mavropoulos JC, Cuchacovich M, Llanos C, Aguillón JC, Gatica H, Pizzo SV, Gonzalez-Gronow M
J Rheumatol 2005 Nov;32(11):2116-24. PMID: 16265688
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716

Diagnosis

Jin L, Huo Y, Zheng Z, Jiang X, Deng H, Chen Y, Lian Q, Ge R, Deng H
Mol Cell Proteomics 2014 Nov;13(11):3138-51. Epub 2014 Aug 5 doi: 10.1074/mcp.M113.033217. PMID: 25096996Free PMC Article
Rossi F, Ruggiero S, Gallo M, Simeone G, Matarese SM, Nobili B
Ann Pharmacother 2010 Jul-Aug;44(7-8):1327-9. Epub 2010 Jun 1 doi: 10.1345/aph.1P030. PMID: 20516363

Therapy

Jeoung NH, Jo AL, Park HS
Biochem Biophys Res Commun 2021 Jun 18;558:22-28. Epub 2021 Apr 22 doi: 10.1016/j.bbrc.2021.04.054. PMID: 33894674
Fang E, Wang J, Hong M, Zheng L, Tong Q
Biochem Biophys Res Commun 2019 Jan 1;508(1):9-16. Epub 2018 Nov 20 doi: 10.1016/j.bbrc.2018.11.103. PMID: 30466785
Hirota T, Tsuboi H, Iizuka-Koga M, Takahashi H, Asashima H, Yokosawa M, Kondo Y, Ohta M, Wakasa Y, Matsumoto I, Takaiwa F, Sumida T
Mod Rheumatol 2017 May;27(3):457-465. Epub 2017 Feb 1 doi: 10.1080/14397595.2016.1218598. PMID: 27539357
Lee HT, Lin CS, Lee CS, Tsai CY, Wei YH
Clin Exp Immunol 2014 Apr;176(1):66-77. doi: 10.1111/cei.12256. PMID: 24345202Free PMC Article
Mavropoulos JC, Cuchacovich M, Llanos C, Aguillón JC, Gatica H, Pizzo SV, Gonzalez-Gronow M
J Rheumatol 2005 Nov;32(11):2116-24. PMID: 16265688

Prognosis

Li Y, Jia Y, Che Q, Zhou Q, Wang K, Wan XP
Oncotarget 2015 Sep 22;6(28):26373-87. doi: 10.18632/oncotarget.4708. PMID: 26308071Free PMC Article
Nakajima K, Yanagawa T, Watanabe H, Takagishi K
Oncol Rep 2012 Dec;28(6):1953-8. Epub 2012 Oct 1 doi: 10.3892/or.2012.2066. PMID: 23027359Free PMC Article
Jacobasch G, Rapoport SM
Mol Aspects Med 1996 Apr;17(2):143-70. doi: 10.1016/0098-2997(96)88345-2. PMID: 8813716

Clinical prediction guides

Osada A, Matsumoto I, Mikami N, Ohyama A, Kurata I, Kondo Y, Tsuboi H, Ishigami A, Sano Y, Arai T, Ise N, Sumida T
Clin Exp Immunol 2021 Mar;203(3):385-399. Epub 2020 Dec 20 doi: 10.1111/cei.13556. PMID: 33238047Free PMC Article
He D, Pengtao G, Ju Y, Jianhua L, He L, Guocai Z, Xichen Z
Korean J Parasitol 2017 Apr;55(2):121-128. Epub 2017 Apr 30 doi: 10.3347/kjp.2017.55.2.121. PMID: 28506033Free PMC Article
Hirota T, Tsuboi H, Iizuka-Koga M, Takahashi H, Asashima H, Yokosawa M, Kondo Y, Ohta M, Wakasa Y, Matsumoto I, Takaiwa F, Sumida T
Mod Rheumatol 2017 May;27(3):457-465. Epub 2017 Feb 1 doi: 10.1080/14397595.2016.1218598. PMID: 27539357
Dai L, Zhu LJ, Zheng DH, Mo YQ, Wei XN, Su JH, Pessler F, Zhang BY
J Rheumatol 2010 Dec;37(12):2452-61. Epub 2010 Sep 1 doi: 10.3899/jrheum.100157. PMID: 20810510
Ribaya JD, Gershoff SN
J Nutr 1977 Mar;107(3):443-52. doi: 10.1093/jn/107.3.443. PMID: 139463

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