USMLE Step 1 Quiz
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BIOCHEMISTRY
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A 1-year-old child presents with failure to thrive, a protuberant abdomen due to hepatomegaly, and muscle weakness. Laboratory studies after an overnight fast show hypoglycemia and significant ketosis. Unlike in von Gierke disease, blood lactate and uric acid levels are normal. A liver biopsy reveals glycogen with abnormally short outer branches.
These findings are most consistent with a deficiency in which of the following enzymes?
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