🏥 USMLE Exam Prep

A 6-month-old infant presents with hypoglycemia, hepatomegaly, and hyperlipidemia. Muscle biopsy is normal, but liver biopsy shows increased glycogen content. Which enzyme deficiency is most likely responsible for these findings?

A Glucose-6-phosphatase
B Acid alpha-glucosidase (Pompe disease)
C Myophosphorylase (McArdle disease)
D Debranching enzyme (Cori disease)

✓ Correct Answer: Option A

These symptoms are classic for Type I glycogen storage disease (Von Gierke disease), caused by a deficiency in glucose-6-phosphatase. This enzyme is crucial for releasing glucose from the liver, leading to fasting hypoglycemia and glycogen accumulation.

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