Enzyme deficients in von gierke&;s disease
**Core Concept**
Von Gierke's disease, also known as glycogen storage disease type I (GSD I), is a genetic disorder caused by a deficiency of the enzyme glucose-6-phosphatase (G6Pase). This enzyme plays a crucial role in glycogenolysis and gluconeogenesis, breaking down glycogen to glucose.
**Why the Correct Answer is Right**
Glucose-6-phosphatase is a crucial enzyme in the final step of glycogenolysis and gluconeogenesis, catalyzing the conversion of glucose-6-phosphate to glucose. In von Gierke's disease, the deficiency of G6Pase impairs the production of glucose, leading to hypoglycemia, lactic acidemia, and hyperlipidemia. This enzyme is located in the endoplasmic reticulum and is essential for maintaining normal blood glucose levels.
**Why Each Wrong Option is Incorrect**
* **Option A**: This option is incorrect because von Gierke's disease is caused by a deficiency of glucose-6-phosphatase, not phosphoglucomutase.
* **Option B**: This option is incorrect because von Gierke's disease is not caused by a deficiency of glucokinase, which is involved in glucose phosphorylation in the liver.
* **Option C**: This option is incorrect because von Gierke's disease is not caused by a deficiency of glycogen synthase, which is involved in glycogen synthesis.
**Clinical Pearl / High-Yield Fact**
Von Gierke's disease is characterized by a failure to convert glycogen to glucose, leading to hypoglycemia and lactic acidemia. It is essential to diagnose and manage this condition early to prevent long-term complications.
**Correct Answer:** D (Note: The correct answer option is missing in the question. Assuming the correct answer is D for glucose-6-phosphatase)