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 Rita Xu + 746 word(s) 746 2020-12-15 07:33:20

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, R. Nonketotic Hyperglycinemia. Encyclopedia. Available online: https://encyclopedia.pub/entry/4596 (accessed on 29 September 2026).
Xu R. Nonketotic Hyperglycinemia. Encyclopedia. Available at: https://encyclopedia.pub/entry/4596. Accessed September 29, 2026.
Xu, Rita. "Nonketotic Hyperglycinemia" Encyclopedia, https://encyclopedia.pub/entry/4596 (accessed September 29, 2026).
Xu, R. (2020, December 24). Nonketotic Hyperglycinemia. In Encyclopedia. https://encyclopedia.pub/entry/4596
Xu, Rita. "Nonketotic Hyperglycinemia." Encyclopedia. Web. 24 December, 2020.
Nonketotic Hyperglycinemia
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/nonketotic-hyperglycinemia

Nonketotic hyperglycinemia is a disorder characterized by abnormally high levels of a molecule called glycine in the body (hyperglycinemia). The excess glycine builds up in tissues and organs, particularly the brain. Affected individuals have serious neurological problems.

genetic conditions

References

  1. Aliefendioğlu D, Tana Aslan Ay, Coşkun T, Dursun A, Cakmak FN, Kesimer M.Transient nonketotic hyperglycinemia: two case reports and literature review.Pediatr Neurol. 2003 Feb;28(2):151-5. Review.
  2. Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinaemia) : review and update. J Inherit Metab Dis. 2004;27(3):417-22. Review.
  3. Applegarth DA, Toone JR. Glycine encephalopathy (nonketotic hyperglycinemia): comments and speculations. Am J Med Genet A. 2006 Jan 15;140(2):186-8.
  4. Coughlin CR 2nd, Swanson MA, Kronquist K, Acquaviva C, Hutchin T,Rodríguez-Pombo P, Väisänen ML, Spector E, Creadon-Swindell G, Brás-Goldberg AM, Rahikkala E, Moilanen JS, Mahieu V, Matthijs G, Bravo-Alonso I, Pérez-Cerdá C,Ugarte M, Vianey-Saban C, Scharer GH, Van Hove JL. The genetic basis of classicnonketotic hyperglycinemia due to mutations in GLDC and AMT. Genet Med. 2017Jan;19(1):104-111. doi: 10.1038/gim.2016.74.Med. 2018 Jan 04;:.
  5. Dinopoulos A, Matsubara Y, Kure S. Atypical variants of nonketotichyperglycinemia. Mol Genet Metab. 2005 Sep-Oct;86(1-2):61-9. Review.
  6. Hoover-Fong JE, Shah S, Van Hove JL, Applegarth D, Toone J, Hamosh A. Natural history of nonketotic hyperglycinemia in 65 patients. Neurology. 2004 Nov23;63(10):1847-53.
  7. Kikuchi G, Motokawa Y, Yoshida T, Hiraga K. Glycine cleavage system: reaction mechanism, physiological significance, and hyperglycinemia. Proc Jpn Acad Ser BPhys Biol Sci. 2008;84(7):246-63. Review.
  8. Stence NV, Fenton LZ, Levek C, Tong S, Coughlin CR 2nd, Hennermann JB,Wortmann SB, Van Hove JLK. Brain imaging in classic nonketotic hyperglycinemia:Quantitative analysis and relation to phenotype. J Inherit Metab Dis. 2019May;42(3):438-450. doi: 10.1002/jimd.12072.
  9. Swanson MA, Coughlin CR Jr, Scharer GH, Szerlong HJ, Bjoraker KJ, Spector EB, Creadon-Swindell G, Mahieu V, Matthijs G, Hennermann JB, Applegarth DA, Toone JR,Tong S, Williams K, Van Hove JL. Biochemical and molecular predictors forprognosis in nonketotic hyperglycinemia. Ann Neurol. 2015 Oct;78(4):606-18. doi: 10.1002/ana.24485.
  10. Van Hove JLK, Coughlin C II, Swanson M, Hennermann JB. NonketoticHyperglycinemia. 2002 Nov 14 [updated 2019 May 23]. In: Adam MP, Ardinger HH,Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews®[Internet]. Seattle (WA): University of Washington, Seattle; 1993-2020. Availablefrom http://www.ncbi.nlm.nih.gov/books/NBK1357/
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 : Rita Xu
View Times: 701
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 24 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