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Article

Acid alpha-glucosidase deficiency (glycogenosis type II, Pompe disease).

Current molecular medicine - 1 Mar 2002

Raben Nina, Plotz Paul, Byrne Barry J

Abstract excerpt

Glycogenosis type II (GSDII, Pompe disease) is an autosomal recessive lysosomal storage disease caused by a deficiency of acid alpha-glucosidase (acid maltase, GAA). The enzyme degrades alpha -1,4 and alpha -1,6 linkages in glycogen, maltose, and isomaltose. Deficiency of the enzyme results in accumulation of glycogen within lysosomes and in cytoplasm eventually leading to tissue destruction. The discovery of the...

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Identifiers

PMID: 11949932
DOI: 10.2174/1566524024605789

Genes

GAA

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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