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 + 519 word(s) 519 2020-12-15 07:24:56

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. GRACILE Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/3951 (accessed on 28 September 2026).
Xu C. GRACILE Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/3951. Accessed September 28, 2026.
Xu, Camila. "GRACILE Syndrome" Encyclopedia, https://encyclopedia.pub/entry/3951 (accessed September 28, 2026).
Xu, C. (2020, December 23). GRACILE Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/3951
Xu, Camila. "GRACILE Syndrome." Encyclopedia. Web. 23 December, 2020.
GRACILE Syndrome
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/gracile-syndrome

GRACILE syndrome is a severe disorder that begins before birth. GRACILE stands for the condition's characteristic features: growth retardation, aminoaciduria, cholestasis, iron overload, lactic acidosis, and early death.

genetic conditions

References

  1. Fellman V. The GRACILE syndrome, a neonatal lethal metabolic disorder withiron overload. Blood Cells Mol Dis. 2002 Nov-Dec;29(3):444-50.
  2. Kotarsky H, Karikoski R, Mörgelin M, Marjavaara S, Bergman P, Zhang DL, SmetJ, van Coster R, Fellman V. Characterization of complex III deficiency and liver dysfunction in GRACILE syndrome caused by a BCS1L mutation. Mitochondrion. 2010Aug;10(5):497-509. doi: 10.1016/j.mito.2010.05.009.
  3. Visapää I, Fellman V, Vesa J, Dasvarma A, Hutton JL, Kumar V, Payne GS,Makarow M, Van Coster R, Taylor RW, Turnbull DM, Suomalainen A, Peltonen L.GRACILE syndrome, a lethal metabolic disorder with iron overload, is caused by a point mutation in BCS1L. Am J Hum Genet. 2002 Oct;71(4):863-76.
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: 780
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