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
Answer / Explanation:
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]