NBME CBSE Practice Questions - NBME Comprehensive Basic Science Examination Exam

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A 7-month-old infant has fasting hypoglycemia, lactic acidosis, hyperuricemia, and massive hepatomegaly. A liver biopsy shows excess glycogen with normal structure. Which enzyme is most likely deficient?

Muscle glycogen phosphorylase Debranching enzyme Glucose-6-phosphatase Lysosomal alpha-1,4-glucosidase

Correct Answer:

Glucose-6-phosphatase

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