All of the following are characteristic of von Gierke disease EXCEPT

• A. Hypoglycemia
• B. Hypolipidemia
• C. Increased plasma lactate
• D. Subnormal response to epinephrine

Answer: (B)

Von Gierke disease is caused by a deficiency of glucose-6-phosphatase in liver (and kidney), which blocks the final step of releasing glucose into the blood after glycogenolysis or gluconeogenesis. Because of this, fasting hypoglycemia is a defining feature since free glucose cannot be produced for circulation. The block also shunts substrate toward lactate production, so plasma lactate rises, contributing to lactic acidosis. Lipid abnormalities occur because ongoing fasting and increased peripheral lipolysis lead to higher levels of triglycerides and cholesterol in the blood (hyperlipidemia), not low lipid levels. When epinephrine stimulates glycogen breakdown, the liver can produce glucose up to glucose-6-phosphate, but it cannot convert that to free glucose, so the blood glucose rise is blunted or subnormal. So the statement describing hypolipidemia does not fit von Gierke disease, which is typically associated with hyperlipidemia, alongside hypoglycemia, elevated lactate, and a blunted epinephrine response.