https://pubmed.ncbi.nlm.nih.gov/40150578/ Glycogen storage disease
Review

Children (Basel). 2025 Feb 27;12(3):295.
doi: 10.3390/children12030295.

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

Yasuo Amano 1, Mika Ishige 2, Maki Amano 1, Naoki Shinoda 3, Chisato Ando 3, Ryo Takagi 1
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PMID: 40150578

PMCID: PMC11941586

DOI: 10.3390/children12030295
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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.