Which statement about von Gierke disease is true?

Which statement about von Gierke disease is true?

• A. Hypoglycemia is present
• B. Hypolipidemia is typical
• C. Elevated epinephrine response is absent
• D. Normal plasma lactate

Answer: (A)

Von Gierke disease is caused by a deficiency of glucose-6-phosphatase in the liver, so the final step of releasing glucose into the blood during fasting is blocked. Because the liver can’t convert glucose-6-phosphate to free glucose, blood glucose falls with fasting, creating severe hypoglycemia. That makes hypoglycemia the true statement. In this condition, the metabolic consequences include elevated lactate (lactic acidosis) and elevated triglycerides (hyperlipidemia), with the liver often enlarged due to glycogen buildup. So saying lipids are typically low is incorrect, and normal plasma lactate is not expected. The body’s counter-regulatory response to hypoglycemia (like epinephrine signaling) is not absent; it’s just that the liver cannot dump glucose into the bloodstream despite those signals, so the glucose-raising effect is impaired rather than the adrenergic response being missing.

Von Gierke disease is caused by a deficiency of glucose-6-phosphatase in the liver, so the final step of releasing glucose into the blood during fasting is blocked. Because the liver can’t convert glucose-6-phosphate to free glucose, blood glucose falls with fasting, creating severe hypoglycemia. That makes hypoglycemia the true statement.

In this condition, the metabolic consequences include elevated lactate (lactic acidosis) and elevated triglycerides (hyperlipidemia), with the liver often enlarged due to glycogen buildup. So saying lipids are typically low is incorrect, and normal plasma lactate is not expected. The body’s counter-regulatory response to hypoglycemia (like epinephrine signaling) is not absent; it’s just that the liver cannot dump glucose into the bloodstream despite those signals, so the glucose-raising effect is impaired rather than the adrenergic response being missing.