A 1-year-old boy with hepatomegaly and doll-like facies has fasting hypoglycemia with lactic acidosis, hyperuricemia, and hyperlipidemia. Liver biopsy shows distended hepatocytes with glycogen and excess fat, and hepatic glucose-6-phosphatase activity is absent. What is the mainstay of long-term dietary management?

• A Continuous overnight intravenous glucose infusion lifelong
• B Fructose supplementation to bypass the enzymatic block
• C Frequent feeds of raw cornstarch during the day and night ✓
• D High-protein diet with medium-chain triglyceride oil as primary therapy

Explanation

Von Gierke disease (GSD type Ia) is due to glucose-6-phosphatase deficiency, producing fasting hypoglycemia, lactic acidosis, hyperuricemia, and hyperlipidemia. Because free glucose can only come from exogenous sources, management uses frequent daytime feeds plus slowly digestible raw cornstarch overnight to maintain normoglycemia. High-protein diets help gluconeogenic defects such as fructose-1,6-bisphosphatase deficiency, not this block.

Reference: Nelson Textbook of Pediatrics, 21st ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.