Article

A Rare Case of Glycogen Storage Disease Type IIIa with a Novel Homozygous AGL Splice Variant in a Two-Year-Old Female born out of Consanguineous Marriage

2025-11-02

Abstract excerpt

<title>Abstract</title> <p>Glycogen Storage Disease IIIa (GSD IIIa) is a hereditary disorder which is caused by the mutations in AGL gene that lead in the production of nonfunctional glycogen debranching enzyme. This enzymatic defect impairs the breakdown of glycogen, causing abnormal glycogen build up in tissues like liver, muscles and heart. This situation manifests in early childhood with symptoms such as hypo...

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Literature Corpus work: 6cc9ff7f-6316-5173-9aee-c232e263d9ac
DOI: 10.21203/rs.3.rs-7936702/v1

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