Glycogen Storage Disease


Pompe’s disease, the infantile form of generalized glycogenesis (infantile type II glycogenesis), is an autosomal recessive lysosomal glycogen storage disease. It presents with early onset of cardiomegaly, hypotonia, cerebral dysfunction, failure to thrive, and early death. Lysosomal glycogen storage affects practically all the tissues in the body and results from a defect of acid α-1,4-glucosidase (or acid maltase). The acid α-glucosidase locus has been localized on chromosome 17.


Schwann Cell Glycogen Storage Glycogen Storage Disease Anterior Horn Cell Cerebral Dysfunction 
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10 Glycogen Storage Disease

  1. 1.
    Suzuki K, Suzuki K (2002) Lysosomal diseases. In: Graham DI, Lantos PL (eds) Greenfields’ neuropathology, 7th edn, Vol 1. Arnold, London, pp 713–714.Google Scholar

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© Springer 2007

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