A 3-year-old presents with hepatomegaly, recurrent hypoglycemia worsened by fasting, lactic acidosis and growth retardation. Liver biopsy shows glycogen accumulation in hepatocytes. Glucose-6-phosphatase activity is absent. The diagnosis is:

• A Glycogen storage disease type III (Cori disease)
• B Glycogen storage disease type V (McArdle disease)
• C Galactosemia
• D Glycogen storage disease type I (Von Gierke disease) ✓

Explanation

Von Gierke disease (GSD type Ia) is caused by glucose-6-phosphatase deficiency, blocking the final step of both glycogenolysis and gluconeogenesis, causing severe fasting hypoglycemia, lactic acidosis, hyperuricemia and hyperlipidemia. Hepatomegaly and nephromegaly result from glycogen accumulation. GSD type III (debrancher enzyme deficiency) also causes hypoglycemia but lactic acid is normal; ketosis occurs instead. McArdle disease (GSD V) affects muscle glycogen phosphorylase, causing exercise intolerance, not hepatomegaly or hypoglycemia. Galactosemia presents with jaundice, cataracts and E. coli sepsis in neonates, not the described metabolic profile.

Reference: Ghai Essential Pediatrics, 10th ed.

High-yield for: NEET PGINI-CETNExTFMGEUSMLEPLABMRCP

Written and medically reviewed by the StethoPrep medical team.