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Metabolic Diseases

3 out of 5

A child presents with hepatomegaly and hypoglycemia. There is no improvement in blood sugar even after administration of epinephrine.

What is the likely diagnosis – (AIPG 2012)

A Von girke's disease
B Anderson's disease

C Pompe's disease
D Mc Ardle's disease

Ans. A

Von Girke's disease

o Amongst the given options only Von Girke's disease presents with hepatomegaly and hypoglycemia.

A diagnosis of type I glycogen storage disease (Von Girke's disease) should be suspected whenever there is hepatomegaly with hypoglycemia that is unresponsive to glucagon or epinephrine".