Von Gierke disease (GSD type I) is due to glucose-6-phosphatase deficiency. Which clinical finding best distinguishes it from other glycogen storage diseases?
- A Muscle cramps and myoglobinuria on exercise
- B Severe fasting hypoglycaemia with lactic acidosis, hyperuricaemia, and hyperlipidaemia ✓
- C Cardiomegaly and hypotonia without hepatomegaly
- D Progressive intellectual disability with cherry-red spot
Correct answer: B. Severe fasting hypoglycaemia with lactic acidosis, hyperuricaemia, and hyperlipidaemia
Explanation
G6Pase deficiency prevents release of free glucose from G6P (from both glycogenolysis and gluconeogenesis), causing severe fasting hypoglycaemia; G6P accumulates and is shunted to lactate (lactic acidosis), ribose-5-phosphate → uric acid (hyperuricaemia), and fatty acid synthesis (hyperlipidaemia/hepatomegaly). McArdle disease (GSD V) causes exercise-induced cramps/myoglobinuria. Pompe (GSD II) causes cardiomegaly. Cherry-red spot with intellectual disability is a lysosomal storage disease.
Reference: Harper's Illustrated Biochemistry, 32nd ed.
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