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Article

A founder splice site mutation underlies glycogen storage disease type 3 in consanguineous Saudi families.

Annals of Saudi medicine - 1 Jan 2000

Basit Sulman, Malibari Omhani, Al Balwi Alia Mahmood, Abdusamad Firoz, Abu Ismail Feras

Abstract excerpt

BACKGROUND AND OBJECTIVES: Glycogen storage disease type 3 (GSD III) is an autosomal recessive disorder caused by genetic mutations in the gene AGL. AGL encodes amylo-a-1, 6-glucosidase, 4-a-glucanotransferase, a glycogen debranching enzyme. GSD III is characterized by fasting hypoglycemia, hepatomegaly, growth retardation, progressive myopathy, and cardiomyopathy due to storage of abnormally structured glycogen...

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Identifiers

PMID: 25827695
DOI: 10.5144/0256-4947.2014.390
PMCID: PMC6074555

Genes

AGL

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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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