# Pictorial Review of MRI Findings of Glycogen Storage Disease from Children to Young Adults

**Authors:** Yasuo Amano, Mika Ishige, Maki Amano, Naoki Shinoda, Chisato Ando, Ryo Takagi

PMC · DOI: 10.3390/children12030295 · Children · 2025-02-27

## TL;DR

This paper reviews how MRI can detect and monitor complications of glycogen storage diseases in children and young adults.

## Contribution

The paper emphasizes the role of MRI in diagnosing GSD complications and suggests regular MRI use for monitoring.

## Key findings

- MRI is useful for identifying complications of GSDs due to its tissue characterization ability.
- MRI should be performed annually in patients with GSDs and hepatic tumors or myocardial scarring.
- Further MRI sequences can quantify the severity of GSDs.

## Abstract

Glycogen storage diseases (GSDs) are rare, inherited disorders of glycogen metabolism caused by a deficiency of enzymes or transporters. GSDs involve the liver, kidneys, skeletal muscles, and heart of children and young adults. The complications involving these organs affect the prognosis of patients with GSDs. Magnetic resonance imaging (MRI) is useful for identifying the complications of GSDs and monitoring the response to treatments owing to its ability of tissue characterization and the lack of a need for ionizing radiation. This pictorial review describes the MRI sequences used for GSDs, presents clinical examples, and emphasizes the pivotal role of MRI as an imaging tool in diagnosing complications associated with GSDs. MRI should be performed at least every year in patients with GSDs and hepatic tumors or myocardial scarring. Further MRI sequences that can be used to quantify the severity of GSDs are discussed.

## Full-text entities

- **Diseases:** inherited disorders (MESH:D030342), hepatic tumors (MESH:D009369), deficiency (MESH:D007153), myocardial scarring (MESH:D002921), GSDs (MESH:D006008)
- **Chemicals:** glycogen (MESH:D006003)
- **Species:** Homo sapiens (human, species) [taxon 9606]

## Full text

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## Figures

9 figures with captions in the complete paper: https://tomesphere.com/paper/PMC11941586/full.md

## References

29 references — full list in the complete paper: https://tomesphere.com/paper/PMC11941586/full.md

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Source: https://tomesphere.com/paper/PMC11941586