GLYCOGEN STORAGE DISEASE

Course overview

GLYCOGEN STORAGE DISEASES (GSDS) ARE INHERITED INBORN ERRORS OF CARBOHYDRATE METABOLISM. CLINICAL ONSET CAN RANGE FROM NEONATAL LIFE TO ADULTHOOD. IN GENERAL, THEY OCCUR DUE TO A LACK OF SPECIFIC ENZYMES INVOLVED IN THE BREAKDOWN OF GLYCOGEN AND RESULT IN AN ABNORMAL BUILDUP OF GLYCOGEN IN THE LIVER OR SKELETAL MUSCLES. THE INABILITY TO MOBILIZE GLUCOSE FROM GLYCOGEN RESULTS IN HYPOGLYCEMIA AND EXERCISE-INDUCED WEAKNESS IN PATIENTS AND LEADS TO LONG-TERM COMPLICATIONS. THIS ACTIVITY DESCRIBES THE EVALUATION AND MANAGEMENT OF GSDS AND EXPLAINS THE INTERPROFESSIONAL TEAM'S ROLE IN MANAGING THESE PATIENTS.