Early recognition of hepatomegaly, hypoglycemia, and elevated liver enzymes in infants is crucial for diagnosing glycogen storage disease. Liver biopsy with PAS-diastase staining provides definitive confirmation. Prompt metabolic management and regular follow-up are essential to prevent progression of fibrosis and long-term hepatic complications.
Keywords: glycogen; glycogen storage disease; liver; metabolic disorder; neonatology.
© 2026 The Author(s). Clinical Case Reports published by John Wiley & Sons Ltd.