🏥 USMLE Exam Prep

A 6-month-old infant presents with hepatomegaly, fasting hypoglycemia, and lactic acidosis. Biopsy reveals increased glycogen stores in the liver with normal structure. Which enzyme deficiency is most likely responsible for these findings?

A Glucose-6-phosphatase
B Glycogen phosphorylase
C Acid alpha-glucosidase
D Debranching enzyme

✓ Correct Answer: Option A

Deficiency of glucose-6-phosphatase (Von Gierke disease, Type I GSD) prevents the release of free glucose from the liver, leading to fasting hypoglycemia, hepatomegaly, and lactic acidosis due to increased glycolysis and lactate production.

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