Enzyme deficiency in Von Gierke disease is: (A) Glycogen synthase, (B) Glucose-6-phosphatase, (C) Branching enzyme, (D) Muscle phosphorylase
Answer is B. Type Name Enzyme Deficiency Clinical Features Ia Von Gierke disease Glucose-6-phosphatase Glycogen accumulation in liver and renal tubule cells Hypoglycemia Lactic acidemia Ketosis Hyperlipidemia Reference: Harper; 30th edition; Table: 18-2; Page no: 179