Question
6-month-old boy presented with doll face, hepatomegaly, acidosis, anemia. Diagnosis was confirmed by light and electron microscopic examination of liver biopsy specimen, which revealed hepatocytes filled with dense pools of glycogen and many lipid droplets. Glucose 6 phosphatase deficiency is suspected. Which of the following is a characteristic laboratory finding in this condition?
| A. | Fasting hypoglycemia |
| B. | High cholesterol |
| C. |
Low lactate |
| D. |
Reduced glutathione levels |
|
Correct Answer � A Explanation |
 |
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This clinical picture is classic for Von Gierke disease (Glycogen Storage Disease type I), caused by glucose-6-phosphatase deficiency.
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The enzyme is required to convert glucose-6-phosphate to free glucose in the liver during fasting.
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Deficiency leads to severe fasting hypoglycemia, as glucose cannot be released into the bloodstream.
Other key lab findings:
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Elevated lactate (not low) due to impaired gluconeogenesis
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Hyperuricemia
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Hyperlipidemia (↑ cholesterol, ↑ triglycerides)
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Lactic acidosis
Reasons to rule out other options:
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B. High cholesterol: May be present, but hypoglycemia is the hallmark and more specific diagnostic clue.
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C. Low lactate: Incorrect. Lactate is elevated due to impaired gluconeogenesis.
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D. Reduced glutathione levels: Seen in G6PD deficiency, not in glucose-6-phosphatase deficiency.