A 8-year-old boy rapidly develops hypoglycemia after moderate activity. On examination, doll like face and the liver and kidneys are found to be enlarged. Blood examination reveals raised levels of ketone bodies, lactic acid, and triglycerides. Histopathology of the liver shows deposits of glycogen in an excess amount. What is the diagnosis?
High-Yield Explanation
Inheritance: Autosomal recessive Definitive diagnosis - liver biopsy Fructose and galactose restriction in the diet is advised. Reference: Harper's Illustrated Biochemistry 30th Edition Page no 179