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Article

c.1437G>A intron 9 substitution on acid α-glucosidase gene associated with classic infantile-onset Pompe disease phenotype.

BMJ case reports - 9 Jul 2015

Morales Andrés, Poling Mikaela I, Páez Marco T, Cabrera Julio, McCormick Rodger J

Abstract excerpt

Pompe disease, or glycogen storage disease type II (GSD2), an autosomal recessive disease first described by Joannes Cassianus Pompe (1901-1945), causes deficient activity of acid α-glucosidase (GAA) enzyme. GAA catalyses α 1,4 and α 1,6 glucosidic linkages in lysosomes; destruction of these linkages permits glycogen to be separated into glucose and later used for energy. Without proper function of this enzyme,...

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Source

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Identifiers

PMID: 26160551
DOI: 10.1136/bcr-2015-210688
PMCID: PMC4499737

Genes

GAA

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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