Abstract
Glycogen storage diseases (GSDs) are a group of genetic disorders that occur in approximately 1 in 100,000 individuals depending on the subtype. Patients with GSD type I lack glucose-6 phosphate, 1 of the enzymes needed to convert glycogen to glucose during times of fasting. GSD type I is the most severe form because of the risk of life-threatening hypoglycemic episodes. Patients with GSDs require a team of professionals who specialize in metabolic disorders to monitor and manage their disease because of its complex nature. However, many of these patients live a distance from a GSD center and require episodic/sporadic care. Nurse practitioners need to be aware of this special subset of patients in the event they arrive for care at their local hospital’s emergency room. This article presents information on the pathophysiology of GSDs and outlines the recognition and management of these rare diseases.
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