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Xu, C. Glycogen Storage Disease Type VI. Encyclopedia. Available online: https://encyclopedia.pub/entry/4039 (accessed on 26 September 2026).
Xu C. Glycogen Storage Disease Type VI. Encyclopedia. Available at: https://encyclopedia.pub/entry/4039. Accessed September 26, 2026.
Xu, Camila. "Glycogen Storage Disease Type VI" Encyclopedia, https://encyclopedia.pub/entry/4039 (accessed September 26, 2026).
Xu, C. (2020, December 23). Glycogen Storage Disease Type VI. In Encyclopedia. https://encyclopedia.pub/entry/4039
Xu, Camila. "Glycogen Storage Disease Type VI." Encyclopedia. Web. 23 December, 2020.
Glycogen Storage Disease Type VI
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-vi

Glycogen storage disease type VI (also known as GSDVI or Hers disease) is an inherited disorder caused by an inability to break down a complex sugar called glycogen in liver cells. A lack of glycogen breakdown interferes with the normal function of the liver.

genetic conditions

References

  1. Beauchamp NJ, Taybert J, Champion MP, Layet V, Heinz-Erian P, Dalton A, TannerMS, Pronicka E, Sharrard MJ. High frequency of missense mutations in glycogenstorage disease type VI. J Inherit Metab Dis. 2007 Oct;30(5):722-34.
  2. Burwinkel B, Bakker HD, Herschkovitz E, Moses SW, Shin YS, Kilimann MW.Mutations in the liver glycogen phosphorylase gene (PYGL) underlying glycogenosistype VI. Am J Hum Genet. 1998 Apr;62(4):785-91.
  3. Chang S, Rosenberg MJ, Morton H, Francomano CA, Biesecker LG. Identificationof a mutation in liver glycogen phosphorylase in glycogen storage disease typeVI. Hum Mol Genet. 1998 May;7(5):865-70.
  4. Labrador E, Weinstein DA. Glycogen Storage Disease Type VI. 2009 Apr 23[updated 2019 Nov 27]. 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/NBK5941/
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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: 944
Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 23 Dec 2020
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