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?
Correct Answer: Von Gierke disease
Description: 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
Category:
Biochemistry
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