Abstract
This lysosomal glycogen storage disease is autosomal recessively inherited and also termed acid maltase deficiency or Pompe’s disease. In all other types of glycogenoses, glycogen deposits are cytosolic (cf. Fig. 70 and 153). The intralysosomal glycogen storage results from defective lysosomal acid α-glucosidase activity whose gene has been mapped to chromosome 17q25. A large number of mutations are spread throughout the gene. Clinically, the disease spans a range of phenotypes all of which are associated with myopathy due to glycogen accumulation in cardiac, skeletal and smooth muscle.
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References
Hirschhorn R and Reuser A (2001) Glycogen storage disease type II: acid α-glucosidase (acid maltase) deficiency. In: The metabolic and molecular bases of inherited diseases (Scriver C, Beaudet A, Valle D, and Sly W, eds). New York: McGraw-Hill, pp 3389
Huie M, Chen A, Tsujino S, Shanske S, DiMauro S, Engel A, and Hirschhorn R (1994) Aberrant splicing in adult onset glycogen storage disease type II (GSDII): molecular identification of an IVS1(−13T6G) mutation fn a majority of patients and a novel IVS0(+1GT6CT) mutation. Hum Mol Genet 3: 1081
Martiniuk F, Mehler M, Pellicer A, Tzall S, LaBadie G, Hobart C, Ellenbogen A, and Hirschhorn R (1986) Isolation of a cDNA for human acid alpha glucosidase and detection of genetic heterogeneity for mRNA in three alpha glucosidase deficient patients. Proc Natl Acad Sci USA 83: 9641
Pompe JC (1932) Over idiopatische hypertrophie van het hart. Ned Tijdschr Geneesk 76: 304
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Pavelka, M., Roth, J. (2010). Glycogenosis Type II. In: Functional Ultrastructure. Springer, Vienna. https://doi.org/10.1007/978-3-211-99390-3_63
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DOI: https://doi.org/10.1007/978-3-211-99390-3_63
Publisher Name: Springer, Vienna
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