Von Gierke disease (GSD type I) involves glucose-6-phosphatase deficiency. Which clinical biochemistry finding is MOST characteristic?

• A Hypoglycaemia, hyperlactataemia, hyperuricaemia, and hypertriglyceridaemia ✓
• B Hypoglycaemia with elevated free fatty acids and ketosis
• C Normal fasting glucose but exercise-induced myopathy and cramps
• D Hypoglycaemia responsive to glucagon injection

Explanation

Without glucose-6-phosphatase, liver glycogenolysis and gluconeogenesis both produce G-6-P that cannot be hydrolysed to free glucose, causing severe fasting hypoglycaemia. G-6-P accumulation diverts to glycolysis → lactate (hyperlactataemia) and the HMP shunt → ribose-5-phosphate → purine synthesis → uric acid (hyperuricaemia). Excess acetyl-CoA drives triglyceride synthesis (hypertriglyceridaemia). Glucagon fails to raise blood glucose because the final step is blocked — distinguishing it from debrancher enzyme deficiency.

Reference: Harper's Illustrated Biochemistry, 32nd ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

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