Glycogen storage disease type II

Definition:

Glycogen storage disease type II (GSDII), also known as Pompe disease, is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (GAA). This deficiency results in glycogen accumulation in the lysosomes, leading to lysosomal swelling, cellular damage and organ dysfunction.

References:

[1]. J M H Anneser, et al. Mutations in the acid alpha-glucosidase gene (M. Pompe) in a patient with an unusual phenotype. Neurology. 2005 Jan 25;64(2):368-70. [Content Brief]

[2]. Priya S Kishnani, et al. Pompe disease diagnosis and management guideline. Genet Med. 2006 May;8(5):267-88. [Content Brief]

[3]. Samuel Ignacio Pascual Pascual, et al. Phenotype variations in early onset Pompe disease: diagnosis and treatment results with Myozyme. Adv Exp Med Biol. 2009;652:39-46. [Content Brief]

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