A child presents with hepatomegaly and hypoglycemia. There is no improvement in blood sugar even after administration of epinephrine. What is the likely diagnosis?
Correct Answer: Von Gierke's disease
Description: Epinephrine- | blood glucose level by stimulating glycogenolysis and gluconeogenesis, mediated by glucose 6 phosphatase- conves Glucose-6-phosphate to Glucose Von Gierke disease- deficiency of Glucose 6 phosphatase enzyme Hence, epinephrine is not able to increase blood glucose in a child with Von Gierke disease, but lactate levels increase.
Category:
Pediatrics
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