Von Gierke’s disease is characterized by deficiency of?
**Core Concept**
Von Gierke's disease, also known as Glycogen storage disease type I (GSD-I), is a genetic disorder affecting glycogen metabolism. It is characterized by the inability to break down glycogen into glucose due to a deficiency in a crucial enzyme involved in this process.
**Why the Correct Answer is Right**
The enzyme deficient in Von Gierke's disease is glucose-6-phosphatase (G6Pase), which is essential for the final step of glycogenolysis and gluconeogenesis. This enzyme catalyzes the conversion of glucose-6-phosphate to glucose, allowing glucose to be released into the bloodstream. The deficiency of G6Pase leads to an accumulation of glycogen in the liver and kidneys, causing hypoglycemia, lactic acidosis, and other metabolic disturbances.
**Why Each Wrong Option is Incorrect**
**Option A:** Glucose-6-phosphate dehydrogenase (G6PD) is an enzyme involved in the pentose phosphate pathway, which is not related to glycogen metabolism.
**Option B:** Phosphoglucomutase is an enzyme involved in glycogen synthesis, not breakdown.
**Option C:** Fructokinase is an enzyme involved in fructose metabolism and has no relation to glycogen storage diseases.
**Clinical Pearl / High-Yield Fact**
Glycogen storage diseases, including Von Gierke's disease, can present with hypoglycemia, lactic acidosis, and hepatomegaly due to glycogen accumulation. Early diagnosis and management are crucial to prevent long-term complications.
**Correct Answer: C. Glucose-6-phosphatase.**