Question:medium
A child presents with hepatomegaly and hypoglycemia. There is no improvement in blood sugar even after administration of epinephrine. What is the likely diagnosis?
A child presents with hepatomegaly and hypoglycemia. There is no improvement in blood sugar even after administration of epinephrine. What is the likely diagnosis?
Show Hint
No sugar rise after epinephrine points to a glucose-6-phosphatase block.
Updated On: Jun 24, 2026
- Von Gierke's disease
- Andersen's disease
- Pompe's disease
- McArdle's disease
Show Solution
The Correct Option is A
Solution and Explanation
Treat this as an enzyme-pathway puzzle. Epinephrine raises blood sugar by mobilizing liver glycogen, and the very last step of releasing glucose into the blood is run by glucose-6-phosphatase. If giving epinephrine fails to lift the sugar, that final enzyme must be the one missing.
A deficiency of glucose-6-phosphatase is Von Gierke's disease, glycogen storage disease type I. Glycogen and glucose-6-phosphate pile up in the liver, so the organ enlarges, while the inability to free glucose leaves the child profoundly hypoglycemic during fasting. The non-response to epinephrine is the signature clue.
Discard the rest by their hallmark organs. Andersen's disease scars the liver into cirrhosis. Pompe's disease floods the heart and muscle, producing a thick, failing heart in infancy. McArdle's disease strikes skeletal muscle, giving cramps and fatigue on exertion. None reproduces the liver-plus-refractory-hypoglycemia combination.
So the answer is Von Gierke's disease.
\[\boxed{\text{Von Gierke's disease}}\]
A deficiency of glucose-6-phosphatase is Von Gierke's disease, glycogen storage disease type I. Glycogen and glucose-6-phosphate pile up in the liver, so the organ enlarges, while the inability to free glucose leaves the child profoundly hypoglycemic during fasting. The non-response to epinephrine is the signature clue.
Discard the rest by their hallmark organs. Andersen's disease scars the liver into cirrhosis. Pompe's disease floods the heart and muscle, producing a thick, failing heart in infancy. McArdle's disease strikes skeletal muscle, giving cramps and fatigue on exertion. None reproduces the liver-plus-refractory-hypoglycemia combination.
So the answer is Von Gierke's disease.
\[\boxed{\text{Von Gierke's disease}}\]
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