Year: 2025
Type: article
Study design: Case Report
Abstract: 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. Due to the progression of hepatic and systemic complications, the patient underwent living donor liver transplantation using his father as the donor. Posttransplant follow-up demonstrated complete resolution of metabolic abnormalities, including hypoglycemia and dyslipidemia, normalization of liver function tests, and significant improvement in bone mineral density and quality of life. This case highlights the role of liver transplantation as a definitive metabolic treatment in selected patients with GSD Ia, offering not only biochemical correction but also prevention of neoplastic transformation and reversal of skeletal complications.
Source: JCEM Case Reports
Institution: Başkent University
Language: English
Subfield: Rheumatology
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $930
OpenAlex ID: W4413307435