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Tang, P. Pompe Disease. Encyclopedia. Available online: https://encyclopedia.pub/entry/5978 (accessed on 20 September 2026).
Tang P. Pompe Disease. Encyclopedia. Available at: https://encyclopedia.pub/entry/5978. Accessed September 20, 2026.
Tang, Peter. "Pompe Disease" Encyclopedia, https://encyclopedia.pub/entry/5978 (accessed September 20, 2026).
Tang, P. (2021, January 04). Pompe Disease. In Encyclopedia. https://encyclopedia.pub/entry/5978
Tang, Peter. "Pompe Disease." Encyclopedia. Web. 04 January, 2021.
Pompe Disease
Edit
This entry is adapted from the peer-reviewed paper https://medlineplus.gov/genetics/condition/pompe-disease

Pompe 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 muscles, impairs their ability to function normally.

genetic conditions

References

  1. Bembi B, Cerini E, Danesino C, Donati MA, Gasperini S, Morandi L, Musumeci O, Parenti G, Ravaglia S, Seidita F, Toscano A, Vianello A. Diagnosis ofglycogenosis type II. Neurology. 2008 Dec 2;71(23 Suppl 2):S4-11. doi:10.1212/WNL.0b013e31818da91e. Review. Citation on PubMed
  2. Chien YH, Lee NC, Thurberg BL, Chiang SC, Zhang XK, Keutzer J, Huang AC, WuMH, Huang PH, Tsai FJ, Chen YT, Hwu WL. Pompe disease in infants: improving theprognosis by newborn screening and early treatment. Pediatrics. 2009Dec;124(6):e1116-25. doi: 10.1542/peds.2008-3667. Citation on PubMed
  3. Fukuda T, Roberts A, Plotz PH, Raben N. Acid alpha-glucosidase deficiency(Pompe disease). Curr Neurol Neurosci Rep. 2007 Jan;7(1):71-7. Review. Citation on PubMed
  4. Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; Infantile-OnsetPompe Disease Natural History Study Group. A retrospective, multinational,multicenter study on the natural history of infantile-onset Pompe disease. JPediatr. 2006 May;148(5):671-676. Citation on PubMed
  5. Kishnani PS, Steiner RD, Bali D, Berger K, Byrne BJ, Case LE, Crowley JF,Downs S, Howell RR, Kravitz RM, Mackey J, Marsden D, Martins AM, Millington DS,Nicolino M, O'Grady G, Patterson MC, Rapoport DM, Slonim A, Spencer CT, Tifft CJ,Watson MS. Pompe disease diagnosis and management guideline. Genet Med. 2006May;8(5):267-88. Erratum in: Genet Med. 2006 Jun;8(6):382. ACMG Work Group onManagement of Pompe Disease [removed]; Case, Laura [corrected to Case, Laura E]. Citation on PubMed or Free article on PubMed Central
  6. van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT,Bakker HD, Loonen MC, de Klerk JB, Reuser AJ, van der Ploeg AT. The naturalcourse of infantile Pompe's disease: 20 original cases compared with 133 casesfrom the literature. Pediatrics. 2003 Aug;112(2):332-40. Review. Citation on PubMed
  7. van der Ploeg AT, Reuser AJ. Pompe's disease. Lancet. 2008 Oct11;372(9646):1342-53. doi: 10.1016/S0140-6736(08)61555-X. Review. Citation on PubMed
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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 : Peter Tang
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Entry Collection: MedlinePlus
Revision: 1 time (View History)
Update Date: 04 Jan 2021
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