Liver Transplantation as a Metabolic Treatment in Glycogen Storage Disease Type Ia.

Glycogen storage disease type Ia (GSD Ia) is a rare autosomal recessive metabolic disorder characterized by glucose-6-phosphatase deficiency, leading to severe fasting hypoglycemia, hypertriglyceridemia, hyperuricemia, hepatic adenomas, and osteoporosis. While intensive dietary and pharmacologic therapy remains the cornerstone of treatment, a subset of patients fails to achieve metabolic control and develops life-altering complications. We report the case of a 20-year-old male with genetically confirmed GSD Ia who exhibited persistent hypoglycemia, severe hyperlipidemia, hepatic adenomas, and osteoporosis despite optimal medical management.