All the following are features of Von Gierke disease except
**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 and kidneys. As a result, patients with Von Gierke disease accumulate glycogen in their liver and kidneys, leading to various clinical manifestations.
**Why the Correct Answer is Right**
The correct answer will be the feature that does not accurately describe Von Gierke disease. Von Gierke disease is characterized by hypoglycemia, lactic acidemia, and an inability to produce glucose from glycogen. This is due to the accumulation of glycogen in the liver, which leads to an increase in glucose-6-phosphate and a decrease in glucose-1-phosphate. The enzyme glucose-6-phosphatase is responsible for converting glucose-6-phosphate to glucose, which is then released into the bloodstream. Without this enzyme, glucose cannot be produced from glycogen, leading to hypoglycemia.
**Why Each Wrong Option is Incorrect**
**Option A:** Hepatomegaly is a feature of Von Gierke disease, as the accumulation of glycogen in the liver leads to an enlarged liver.
**Option B:** Hypoglycemia is a characteristic of Von Gierke disease, as the inability to produce glucose from glycogen leads to low blood sugar levels.
**Option C:** Lactic acidemia is a feature of Von Gierke disease, as the accumulation of glycogen in the liver leads to an increase in glucose-6-phosphate, which is then converted to lactate.
**Clinical Pearl / High-Yield Fact**
One important clinical correlation to remember is that Von Gierke disease is often diagnosed in infancy or early childhood, as symptoms such as hypoglycemia and lactic acidemia can be life-threatening if left untreated.
**Correct Answer:** D