Glycogen Storage Disease Type IV

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Xu, C. Glycogen Storage Disease Type IV. Encyclopedia. Available online: https://encyclopedia.pub/entry/4030 (accessed on 27 September 2026).

Xu C. Glycogen Storage Disease Type IV. Encyclopedia. Available at: https://encyclopedia.pub/entry/4030. Accessed September 27, 2026.

Xu, Camila. "Glycogen Storage Disease Type IV" Encyclopedia, https://encyclopedia.pub/entry/4030 (accessed September 27, 2026).

Xu, C. (2020, December 23). Glycogen Storage Disease Type IV. In Encyclopedia. https://encyclopedia.pub/entry/4030

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

Glycogen Storage Disease Type IV

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

Glycogen storage disease type IV (GSD IV) is an inherited disorder caused by the buildup of a complex sugar called glycogen in the body's cells. The accumulated glycogen is structurally abnormal and impairs the function of certain organs and tissues, especially the liver and muscles. There are five types of GSD IV, which are distinguished by their severity, signs, and symptoms.

genetic conditions

References

Assereto S, van Diggelen OP, Diogo L, Morava E, Cassandrini D, Carreira I, de Boode WP, Dilling J, Garcia P, Henriques M, Rebelo O, ter Laak H, Minetti C,Bruno C. Null mutations and lethal congenital form of glycogen storage diseasetype IV. Biochem Biophys Res Commun. 2007 Sep 21;361(2):445-50.
Bruno C, Cassandrini D, Assereto S, Akman HO, Minetti C, Di Mauro S.Neuromuscular forms of glycogen branching enzyme deficiency. Acta Myol. 2007Jul;26(1):75-8.
Bruno C, van Diggelen OP, Cassandrini D, Gimpelev M, Giuffrè B, Donati MA,Introvini P, Alegria A, Assereto S, Morandi L, Mora M, Tonoli E, Mascelli S,Traverso M, Pasquini E, Bado M, Vilarinho L, van Noort G, Mosca F, DiMauro S,Zara F, Minetti C. Clinical and genetic heterogeneity of branching enzymedeficiency (glycogenosis type IV). Neurology. 2004 Sep 28;63(6):1053-8.
Burrow TA, Hopkin RJ, Bove KE, Miles L, Wong BL, Choudhary A, Bali D, Li SC,Chen YT. Non-lethal congenital hypotonia due to glycogen storage disease type IV.Am J Med Genet A. 2006 Apr 15;140(8):878-82.
Fernandez C, Halbert C, De Paula AM, Lacroze V, Froissart R, Figarella-BrangerD, Chabrol B, Pellissier JF. Non-lethal neonatal neuromuscular variant ofglycogenosis type IV with novel GBE1 mutations. Muscle Nerve. 2010Feb;41(2):269-71. doi: 10.1002/mus.21499.
Magoulas PL, El-Hattab AW, Roy A, Bali DS, Finegold MJ, Craigen WJ. Diffusereticuloendothelial system involvement in type IV glycogen storage disease with anovel GBE1 mutation: a case report and review. Hum Pathol. 2012 Jun;43(6):943-51.doi: 10.1016/j.humpath.2011.10.001.
Tay SK, Akman HO, Chung WK, Pike MG, Muntoni F, Hays AP, Shanske S, ValbergSJ, Mickelson JR, Tanji K, DiMauro S. Fatal infantile neuromuscular presentation of glycogen storage disease type IV. Neuromuscul Disord. 2004 Apr;14(4):253-60.

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Subjects: Genetics & Heredity

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Entry Collection: MedlinePlus

Update Date: 23 Dec 2020

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