🏥 USMLE Exam Prep

A 3-month-old infant presents with hepatomegaly, hypoglycemia, and lactic acidosis. Physical examination reveals a 'doll-like' face and renomegaly. Muscle strength is normal. Which enzyme deficiency is most likely responsible for this condition?

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

✓ Correct Answer: Option B

This clinical presentation is classic for Von Gierke disease (Type I Glycogen Storage Disease), caused by a deficiency in glucose-6-phosphatase, which impairs glucose release from the liver and kidneys.

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