Von Gierke&;s disease is due to the deficiency of
**Core Concept**
Von Gierke's disease, also known as Glycogen Storage Disease Type I (GSD I), is a rare genetic disorder characterized by the deficiency of a key enzyme involved in glycogen metabolism. This enzyme plays a crucial role in breaking down glycogen to glucose in the liver and kidneys.
**Why the Correct Answer is Right**
The correct answer is **Glucose-6-phosphatase**. This enzyme catalyzes the final step of glycogenolysis and gluconeogenesis, converting glucose-6-phosphate to glucose. In the absence of glucose-6-phosphatase, glycogen cannot be broken down to glucose, leading to hypoglycemia, lactic acidemia, and an inability to maintain normal blood glucose levels. This enzyme is located in the endoplasmic reticulum of liver and kidney cells.
**Why Each Wrong Option is Incorrect**
**Option A:** Glucose-6-phosphatase is not a component of the pentose phosphate pathway, which is related to the production of NADPH and pentoses from glucose-6-phosphate.
**Option B:** Hexokinase is an enzyme involved in the phosphorylation of glucose to glucose-6-phosphate, but it is not deficient in Von Gierke's disease.
**Option C:** Phosphoglucomutase is an enzyme involved in the conversion of glucose-1-phosphate to glucose-6-phosphate, but it is not the enzyme deficient in Von Gierke's disease.
**Clinical Pearl / High-Yield Fact**
Von Gierke's disease is a classic example of a glycogen storage disease, and its diagnosis is often made based on the patient's clinical presentation, laboratory findings, and genetic testing. It is essential for clinicians to recognize the characteristic features of this disease and initiate appropriate management to prevent complications.
**Correct Answer: C. Glucose-6-phosphatase**