A10-year-old boy rapidly develops hypoglycemia after moderate activity. Blood examination reveals raised ketone bodies, lactic acid, and triglycerides. On examination, the liver & kidneys were enlarged. Histopathology of the liver shows deposits of glycogen in excess amount. What is the diagnosis?
Most common glycogen storage disease presenting with hypoglycemia and normal glycogen structure is Von Gierke disease, Von Gierke disease is due to deficiency of glucose-6-phosphatase. affects only liver Clinical features: severe hypoglycemia ketosis massive hepatomegaly enlarged kidneys hyperiglyceridemia lactic acidosis hyperuricemia Spleen not enlarged
Von Gierke disease
Pompe's disease
Mc Ardle's disease
Forbe's disease
Glycogen