Enzyme involved in Von Girke disease is?
**Core Concept**
Von Gierke disease, also known as glycogen storage disease type I (GSD I), is a rare genetic disorder caused by a deficiency of the enzyme glucose-6-phosphatase. This enzyme plays a crucial role in the breakdown of glycogen to glucose in the liver, kidneys, and small intestine.
**Why the Correct Answer is Right**
Glucose-6-phosphatase is a key enzyme in the glucose-glycogen metabolism pathway. It catalyzes the final step of gluconeogenesis and glycogenolysis, converting glucose-6-phosphate to glucose. In the absence of this enzyme, glycogen cannot be broken down to glucose, leading to hypoglycemia, lactic acidosis, and other metabolic disturbances characteristic of Von Gierke disease.
**Why Each Wrong Option is Incorrect**
**Option A:** This option is incorrect because it does not directly relate to the enzyme deficiency causing Von Gierke disease. The enzyme involved in this condition is glucose-6-phosphatase, not a debranching enzyme.
**Option B:** This option is incorrect because it is associated with another type of glycogen storage disease, Hers' disease (GSD VI). This enzyme is involved in the breakdown of glycogen to glucose, but it is not the enzyme deficient in Von Gierke disease.
**Option C:** This option is incorrect because it is associated with Pompe disease (GSD II), a different glycogen storage disorder caused by a deficiency of acid alpha-glucosidase.
**Option D:** This option is incorrect because it is associated with Cori's disease (GSD III), a glycogen storage disorder caused by a deficiency of debranching enzyme.
**Clinical Pearl / High-Yield Fact**
One key aspect of Von Gierke disease is the accumulation of glycogen in the liver, which can lead to liver enlargement and cirrhosis. Patients with this condition often require frequent glucose infusions and dietary adjustments to manage their metabolic disturbances.
**Correct Answer: C. Acid alpha-glucosidase**