Question

A 2-year-old child has failure to thrive. The child exhibits convulsions. On physical examination there is hepatomegaly along with multiple ecchymoses of various ages of the skin. Laboratory studies show a blood glucose of 31 mg/dL. Liver biopsy us performed and microscopic examination shows hepatocytes filled with clear vacuoles that stain positively for glycogen.
Which of the following inborn errors of metabolism is this child most likely to have?


A McArdle syndrome

B Hurler syndrome

C Tay-Sachs disease

D Von Gierke disease

E Pompe disease
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Answer / Explanation:

[HIDE](D) CORRECT.

There is a deficiency of glucose-6-phosphatase, so that glycogen is not metabolized readily to glucose. Because of this abnormality, patients have severe hypoglycemia, leading to convulsions. Intracytoplasmic accumulations of glycogen occur mainly in liver and kidney.[/HIDE]
.