Alpers-Huttenlocher Syndrome

Version	Summary	Created by	Modification	Content Size	Created at	Operation
1		Catherine Yang	+ 562 word(s)	562	2020-12-15 07:15:23

Cite

If you have any further questions, please contact Encyclopedia Editorial Office.

Select a Style

Yang, C. Alpers-Huttenlocher Syndrome. Encyclopedia. Available online: https://encyclopedia.pub/entry/4689 (accessed on 26 September 2026).

Yang C. Alpers-Huttenlocher Syndrome. Encyclopedia. Available at: https://encyclopedia.pub/entry/4689. Accessed September 26, 2026.

Yang, Catherine. "Alpers-Huttenlocher Syndrome" Encyclopedia, https://encyclopedia.pub/entry/4689 (accessed September 26, 2026).

Yang, C. (2020, December 24). Alpers-Huttenlocher Syndrome. In Encyclopedia. https://encyclopedia.pub/entry/4689

Yang, Catherine. "Alpers-Huttenlocher Syndrome." Encyclopedia. Web. 24 December, 2020.

Alpers-Huttenlocher Syndrome

Edit

This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/alpers-huttenlocher-syndrome

Alpers-Huttenlocher syndrome is one of the most severe of a group of conditions called the POLG-related disorders. The conditions in this group feature a range of similar signs and symptoms involving muscle-, nerve-, and brain-related functions. Alpers-Huttenlocher syndrome typically becomes apparent in children between ages 2 and 4. People with this condition usually have three characteristic features: recurrent seizures that do not improve with treatment (intractable epilepsy), loss of mental and movement abilities (psychomotor regression), and liver disease.

genetic conditions

References

Chan SS, Longley MJ, Copeland WC. The common A467T mutation in the humanmitochondrial DNA polymerase (POLG) compromises catalytic efficiency andinteraction with the accessory subunit. J Biol Chem. 2005 Sep 9;280(36):31341-6.
Cohen BH, Chinnery PF, Copeland WC. POLG-Related Disorders. 2010 Mar 16[updated 2018 Mar 1]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH,Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): Universityof Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK26471/
Milone M, Massie R. Polymerase gamma 1 mutations: clinical correlations.Neurologist. 2010 Mar;16(2):84-91. doi: 10.1097/NRL.0b013e3181c78a89. Review.
Moraes CT, Shanske S, Tritschler HJ, Aprille JR, Andreetta F, Bonilla E, SchonEA, DiMauro S. mtDNA depletion with variable tissue expression: a novel geneticabnormality in mitochondrial diseases. Am J Hum Genet. 1991 Mar;48(3):492-501.
Nguyen KV, Sharief FS, Chan SS, Copeland WC, Naviaux RK. Molecular diagnosisof Alpers syndrome. J Hepatol. 2006 Jul;45(1):108-16.
Rocher C, Taanman JW, Pierron D, Faustin B, Benard G, Rossignol R, Malgat M,Pedespan L, Letellier T. Influence of mitochondrial DNA level on cellular energy metabolism: implications for mitochondrial diseases. J Bioenerg Biomembr. 2008Apr;40(2):59-67. doi: 10.1007/s10863-008-9130-5.
Stumpf JD, Copeland WC. Mitochondrial DNA replication and disease: insightsfrom DNA polymerase γ mutations. Cell Mol Life Sci. 2011 Jan;68(2):219-33. doi:10.1007/s00018-010-0530-4.

©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 : Catherine Yang

View Times: 1.0K

Entry Collection: MedlinePlus

Update Date: 24 Dec 2020

Table of Contents

Video Upload Options

References