Glycogen Storage Disease Type I

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Xu, C. Glycogen Storage Disease Type I. Encyclopedia. Available online: https://encyclopedia.pub/entry/4032 (accessed on 28 September 2026).

Xu C. Glycogen Storage Disease Type I. Encyclopedia. Available at: https://encyclopedia.pub/entry/4032. Accessed September 28, 2026.

Xu, Camila. "Glycogen Storage Disease Type I" Encyclopedia, https://encyclopedia.pub/entry/4032 (accessed September 28, 2026).

Xu, C. (2020, December 23). Glycogen Storage Disease Type I. In Encyclopedia. https://encyclopedia.pub/entry/4032

Xu, Camila. "Glycogen Storage Disease Type I." Encyclopedia. Web. 23 December, 2020.

Glycogen Storage Disease Type I

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This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/glycogen-storage-disease-type-i

Glycogen storage disease type I (also known as GSDI or von Gierke disease) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulation of glycogen in certain organs and tissues, especially the liver, kidneys, and small intestines, impairs their ability to function normally.

genetic conditions

References

Bali DS, Chen YT, Austin S, Goldstein JL. Glycogen Storage Disease Type I.2006 Apr 19 [updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, WallaceSE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle(WA): University of Washington, Seattle; 1993-2020. Available fromhttp://www.ncbi.nlm.nih.gov/books/NBK1312/
Chou JY, Jun HS, Mansfield BC. Neutropenia in type Ib glycogen storagedisease. Curr Opin Hematol. 2010 Jan;17(1):36-42. doi:10.1097/MOH.0b013e328331df85. Review.
Chou JY, Mansfield BC. Mutations in the glucose-6-phosphatase-alpha (G6PC)gene that cause type Ia glycogen storage disease. Hum Mutat. 2008Jul;29(7):921-30. doi: 10.1002/humu.20772. Review.
Froissart R, Piraud M, Boudjemline AM, Vianey-Saban C, Petit F, Hubert-BuronA, Eberschweiler PT, Gajdos V, Labrune P. Glucose-6-phosphatase deficiency.Orphanet J Rare Dis. 2011 May 20;6:27. doi: 10.1186/1750-1172-6-27. Review.
Kishnani PS, Austin SL, Abdenur JE, Arn P, Bali DS, Boney A, Chung WK, DagliAI, Dale D, Koeberl D, Somers MJ, Wechsler SB, Weinstein DA, Wolfsdorf JI, WatsonMS; American College of Medical Genetics and Genomics. Diagnosis and managementof glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics. Genet Med. 2014 Nov;16(11):e1.
Melis D, Fulceri R, Parenti G, Marcolongo P, Gatti R, Parini R, Riva E, Della Casa R, Zammarchi E, Andria G, Benedetti A. Genotype/phenotype correlation inglycogen storage disease type 1b: a multicentre study and review of theliterature. Eur J Pediatr. 2005 Aug;164(8):501-8.

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Subjects: Genetics & Heredity

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Update Date: 23 Dec 2020

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