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Article

Genetic diagnosis of Jordanian patients with glycogen storage diseases.

Orphanet journal of rare diseases - 3 Oct 2025

Shboul Mohammad, El-Khateeb Mohammed, Fathallah Rajaa

Abstract excerpt

BACKGROUND: Glycogen storage diseases (GSDs) are a group of hereditary metabolic disorders caused by defects in biosynthesis, and storage of glycogen that affect various organs, such as liver, muscles, and heart. Approximately 29 genes are implicated in GSDs. This study aimed to identify the genetic variants causing GSDs in Jordanian patients. METHODS: Twenty patients with clinically suspected GSD were studied....

Topics

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Child
Child, Preschool
Exome Sequencing
PGD gene
Glycogen Storage Disease
Jordan

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Prenatal Diagnosis

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Open in PubMed Open full text

Identifiers

PMID: 41044641
DOI: 10.1186/s13023-025-03982-z
PMCID: PMC12495632

Genes

PGD
AGL
GAA
GBE1
PHKG2
SLC2A2
SLC37A4

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 1 Sept 2026.

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