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glycogen storage disease type 2

MIM.232300 17q25.2-q25.3

Tuesday 29 May 2007

Definition: Pompe disease (type II glycogenosis) is an infantile form of generalized glycogenosis. It is characterized biochemically by deficiency of lysosomal acid alpha-1,4-glucosidase and morphologically by intralysosomal glycogen storage in multiple organs, notably the central nervous system, heart, liver, and skeletal muscles.

Glycogen storage disease type 2 (GSD2) is caused by mutation in the gene encoding acid alpha-1,4-glucosidase (GAA) (MIM.606800), which has been mapped to chromosome 17.

Glycogen storage disease II is an autosomal recessive disorder and is the prototype of lysosomal storage diseases (LSDs).

In the classic infantile form (Pompe disease), cardiomyopathy and muscular hypotonia are the cardinal features.

In the juvenile and adult forms, involvement of skeletal muscles dominates the clinical picture.


Infantile form of generalized glycogenosis is due to deficiency of lysosomal acid alpha-1,4-glucosidase.


- intralysosomal glycogen storage in CNS, heart, liver, skeletal muscle, thyroid, parathyroid, pituitary, pancreatic islets;
- also in adrenal cortex and medulla, with severe accumulation in zona fasciculata (3899054)

See also

- glycogenoses (glycogen storage diseases, GSDs)