Question:
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?
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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
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The Correct Option is A
Solution and Explanation
Step 1: The features are a big liver, low blood sugar, and crucially, the blood sugar does not rise after epinephrine. Epinephrine and glucagon raise sugar by breaking down liver glycogen and by gluconeogenesis, with the final step being glucose-6-phosphatase converting glucose-6-phosphate to free glucose for release.
Step 2: If the sugar will not rise after epinephrine, the block must be at the last common step, glucose-6-phosphatase. A deficiency of this enzyme is Von Gierke's disease, glycogen storage disease type I.
Step 3: Von Gierke's disease gives exactly this picture: massive hepatomegaly, severe fasting hypoglycemia, and a failure to respond to epinephrine or glucagon, along with lactic acidosis, hyperuricemia and hyperlipidemia.
Step 4: Why the others are wrong. Andersen's disease (type IV, branching enzyme defect) causes cirrhosis and liver failure, not this hypoglycemia pattern. Pompe's disease (type II, acid maltase) is a lysosomal disorder affecting the heart and muscles with cardiomegaly, not fasting hypoglycemia. McArdle's disease (type V, muscle phosphorylase) causes exercise-induced muscle cramps, not liver disease or hypoglycemia.
Step 5: The diagnosis is Von Gierke's disease.
Answer: Option A, Von Gierke's disease.
Step 2: If the sugar will not rise after epinephrine, the block must be at the last common step, glucose-6-phosphatase. A deficiency of this enzyme is Von Gierke's disease, glycogen storage disease type I.
Step 3: Von Gierke's disease gives exactly this picture: massive hepatomegaly, severe fasting hypoglycemia, and a failure to respond to epinephrine or glucagon, along with lactic acidosis, hyperuricemia and hyperlipidemia.
Step 4: Why the others are wrong. Andersen's disease (type IV, branching enzyme defect) causes cirrhosis and liver failure, not this hypoglycemia pattern. Pompe's disease (type II, acid maltase) is a lysosomal disorder affecting the heart and muscles with cardiomegaly, not fasting hypoglycemia. McArdle's disease (type V, muscle phosphorylase) causes exercise-induced muscle cramps, not liver disease or hypoglycemia.
Step 5: The diagnosis is Von Gierke's disease.
Answer: Option A, Von Gierke's disease.
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