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Updated: Jun 10, 2026

Detecting Glycogen in Peripheral Blood Mononuclear Cells with Periodic Acid Schiff Staining
Published on: December 23, 2014
Premature coronary artery disease in a patient with glycogen storage disease III
Matthew LaBarbera1, Gary Milechman, Fiona Dulbecco
1Department of Cardiology, California Pacific Medical Center, San Francisco, California 94115, USA.
Insights
Glycogen storage disease type III (GSD III) may increase the risk of early heart problems. This case report highlights a young patient with GSD III experiencing a heart attack and cardiac arrest, suggesting a need for cardiac screening.
Area of Science:
- Metabolic disorders
- Cardiovascular medicine
- Genetics
Background:
- Glycogen storage disease type III (GSD III) is a rare inherited metabolic disorder impacting intracellular glycogen metabolism.
- Existing research links GSD III to dyslipidemia and endothelial dysfunction.
- Premature atherosclerotic heart disease in GSD III patients has not been previously documented.
Observation:
- A 24-year-old patient diagnosed with GSD III presented with ventricular fibrillation cardiac arrest.
- The cardiac arrest occurred in the context of an anterior wall myocardial infarction.
Findings:
- This case represents the first reported instance of premature atherosclerotic heart disease in a patient with GSD III.
- The patient's presentation underscores a potential link between GSD III and early-onset cardiovascular events.
Implications:
- Further research is crucial to determine the prevalence of atherosclerotic heart disease in the GSD III population.
- Developing screening protocols and preventative strategies for at-risk GSD III patients is essential.
- This case highlights the importance of considering cardiovascular complications in patients with rare metabolic disorders.
Abstract:
The glycogen storage diseases are a rare form of inherited metabolic disease affecting intracellular glycogen metabolism, and several studies suggest glycogen storage disease (GSD) III predisposes patients to dyslipidemia and endothelial dysfunction. The presence of premature atherosclerotic heart disease in patients with GSD III has not been reported in the literature. We report a case of a 24- year old patient with GSD III admitted with ventricular fibrillation cardiac arrest in the setting of anterior wall myocardial infarction. Further studies are warranted on the prevalence of atherosclerotic heart disease, and potential screening and preventative strategies, in this population of patients potentially at-risk for early cardiac events.
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