Physical exercise intervention in glycogen storage disease IIIa: Feasibility and multisystem benefits

Abstract

Glycogen storage disease III (GSD-III) is caused by an inherited deficiency of the glycogen debranching enzyme. Affecting the liver, muscle and heart, GSD-IIIa is the most common GSD-III subtype. We evaluated the feasibility and safety of a physical exercise intervention in patients with GSD-IIIa and its effects at the multisystem level. Nine patients participated in a 12 week home-based, remotely supervised programme combining moderate-intensity endurance and resistance exercises. The intervention was safe and well tolerated, with no changes in wellbeing over time and with a decrease in perceived fatigue severity during the intervention. The following significant effects were found at postintervention: Decrease in visceral adipose tissue; healthier cardiac geometry; and increases in peak oxygen uptake, peak power output and knee-extension isometric strength. Although more research is needed, the present findings suggest that exercise should be considered in GSD-IIIa management.