Enzyme deficient in Von-Gierke’s disease is:
**Core Concept**
Von Gierke's disease, also known as glycogen storage disease type I (GSD I), is a congenital disorder caused by the deficiency of an enzyme involved in glycogen metabolism. This leads to the accumulation of glycogen in the liver and kidneys, resulting in hypoglycemia and lactic acidosis.
**Why the Correct Answer is Right**
The correct answer is Glucose-6-phosphatase, an enzyme that catalyzes the final step in glycogen breakdown. In the absence of this enzyme, glucose-6-phosphate cannot be converted to glucose, causing an accumulation of glycogen and leading to the characteristic symptoms of Von Gierke's disease. This enzyme is crucial for the maintenance of normal blood glucose levels, as it is involved in the gluconeogenesis pathway.
**Why Each Wrong Option is Incorrect**
* **Option A:** Debranching enzyme is involved in glycogen breakdown, but its deficiency leads to Cori's disease, a different form of glycogen storage disease.
* **Option B:** Phosphorylase is an enzyme involved in glycogen synthesis and breakdown, but its deficiency leads to McArdle's disease, a different type of glycogen storage disease.
* **Option D:** Glucose-6-phosphate dehydrogenase is an enzyme involved in the pentose phosphate pathway, but its deficiency leads to a different condition, not related to glycogen storage.
**Clinical Pearl / High-Yield Fact**
Von Gierke's disease is characterized by hypoglycemia, lactic acidosis, and hepatomegaly due to glycogen accumulation. It is essential to diagnose and manage this condition promptly to prevent long-term complications.
**Correct Answer: C. Glucose-6-phosphatase**