Your browser does not fully support modern features. Please upgrade for a smoother experience.
Submitted Successfully!
Thank you for your contribution! You can also upload a video entry or images related to this topic. For video creation, please contact our Academic Video Service.
Version Summary Created by Modification Content Size Created at Operation
1 Camila Xu + 529 word(s) 529 2020-12-15 07:25:25

Video Upload Options

We provide professional Academic Video Service to translate complex research into visually appealing presentations. Would you like to try it?
No, upload directly Yes
Cite
If you have any further questions, please contact Encyclopedia Editorial Office.
Xu, C. Glucose Phosphate Isomerase Deficiency. Encyclopedia. Available online: https://encyclopedia.pub/entry/4019 (accessed on 27 September 2026).
Xu C. Glucose Phosphate Isomerase Deficiency. Encyclopedia. Available at: https://encyclopedia.pub/entry/4019. Accessed September 27, 2026.
Xu, Camila. "Glucose Phosphate Isomerase Deficiency" Encyclopedia, https://encyclopedia.pub/entry/4019 (accessed September 27, 2026).
Xu, C. (2020, December 23). Glucose Phosphate Isomerase Deficiency. In Encyclopedia. https://encyclopedia.pub/entry/4019
Xu, Camila. "Glucose Phosphate Isomerase Deficiency." Encyclopedia. Web. 23 December, 2020.
Glucose Phosphate Isomerase Deficiency
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glucose-phosphate-isomerase-deficiency

Glucose phosphate isomerase (GPI) deficiency is an inherited disorder that affects red blood cells, which carry oxygen to the body's tissues.

genetic conditions

References

  1. Baronciani L, Zanella A, Bianchi P, Zappa M, Alfinito F, Iolascon A, TannoiaN, Beutler E, Sirchia G. Study of the molecular defects in glucose phosphateisomerase-deficient patients affected by chronic hemolytic anemia. Blood. 1996Sep 15;88(6):2306-10.
  2. Beutler E, West C, Britton HA, Harris J, Forman L. Glucosephosphate isomerase (GPI) deficiency mutations associated with hereditary nonspherocytic hemolyticanemia (HNSHA). Blood Cells Mol Dis. 1997 Dec;23(3):402-9.
  3. Fujii H, Kanno H, Hirono A, Miwa S. Hematologically important mutations:molecular abnormalities of glucose phosphate isomerase deficiency. Blood CellsMol Dis. 1996;22(2):96-7. Review.
  4. Kanno H, Fujii H, Hirono A, Ishida Y, Ohga S, Fukumoto Y, Matsuzawa K, OgawaS, Miwa S. Molecular analysis of glucose phosphate isomerase deficiencyassociated with hereditary hemolytic anemia. Blood. 1996 Sep 15;88(6):2321-5.
  5. Kugler W, Breme K, Laspe P, Muirhead H, Davies C, Winkler H, Schröter W,Lakomek M. Molecular basis of neurological dysfunction coupled with haemolyticanaemia in human glucose-6-phosphate isomerase (GPI) deficiency. Hum Genet. 1998 Oct;103(4):450-4.
  6. Lakomek M, Winkler H. Erythrocyte pyruvate kinase- and glucose phosphateisomerase deficiency: perturbation of glycolysis by structural defects andfunctional alterations of defective enzymes and its relation to the clinicalseverity of chronic hemolytic anemia. Biophys Chem. 1997 Jun 30;66(2-3):269-84.
  7. Repiso A, Oliva B, Vives-Corrons JL, Beutler E, Carreras J, Climent F. Redcell glucose phosphate isomerase (GPI): a molecular study of three novelmutations associated with hereditary nonspherocytic hemolytic anemia. Hum Mutat. 2006 Nov;27(11):1159.
  8. Warang P, Kedar P, Ghosh K, Colah RB. Hereditary non-spherocytic hemolyticanemia and severe glucose phosphate isomerase deficiency in an Indian patienthomozygous for the L487F mutation in the human GPI gene. Int J Hematol. 2012Aug;96(2):263-7. doi: 10.1007/s12185-012-1122-x.
  9. Xu W, Beutler E. The characterization of gene mutations for human glucosephosphate isomerase deficiency associated with chronic hemolytic anemia. J ClinInvest. 1994 Dec;94(6):2326-9.
More
©Text is available under the terms and conditions of the Creative Commons-Attribution ShareAlike (CC BY-SA) license; additional terms may apply. By using this site, you agree to the Terms and Conditions and Privacy Policy.
Upload a video for this entry
Information
Subjects: Genetics & Heredity
Contributor MDPI registered users' name will be linked to their SciProfiles pages. To register with us, please refer to https://encyclopedia.pub/register : Camila Xu
View Times: 856
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
Table of Contents
    Notice
    You are not a member of the advisory board for this topic. If you want to update advisory board member profile, please contact office@encyclopedia.pub.
    OK
    Confirm
    Only members of the Encyclopedia advisory board for this topic are allowed to note entries. Would you like to become an advisory board member of the Encyclopedia?
    Yes
    No
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    There is no comment~
    ${ textCharacter }/${ maxCharacter }
    Submit
    Cancel
    ${ selectedItem.replyTextCharacter }/${ selectedItem.replyMaxCharacter }
    Submit
    Cancel
    Confirm
    Are you sure to Delete?
    Yes No
    Academic Video Service
    Feedback