Atikcan Simsek Deniz Turkum, Avcı Dursun Elif Melek, Senay Ozcalik Merve, Turhan Iyidir Ozlem, Nar Asli, Bascil Tutuncu Neslihan
Department of Endocrinology and Metabolism, Baskent University, Cankaya, Ankara 06530, Turkey.
Department of Nutrition and Dietetics, Baskent University, Ankara 06530, Turkey.
JCEM Case Rep. 2025 Aug 19;3(10):luaf182. doi: 10.1210/jcemcr/luaf182. eCollection 2025 Oct.
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.
糖原贮积病Ia型（GSD Ia）是一种罕见的常染色体隐性代谢紊乱疾病，其特征为葡萄糖-6-磷酸酶缺乏，导致严重的空腹低血糖、高甘油三酯血症、高尿酸血症、肝腺瘤和骨质疏松症。虽然强化饮食和药物治疗仍然是治疗的基石，但一部分患者未能实现代谢控制，并出现改变生活的并发症。我们报告了一例20岁经基因确诊为GSD Ia的男性病例，尽管接受了最佳的药物治疗，但仍表现出持续性低血糖、严重高脂血症、肝腺瘤和骨质疏松症。由于肝脏和全身并发症的进展，该患者接受了以其父亲为供体的活体供肝移植。移植后的随访显示代谢异常完全缓解，包括低血糖和血脂异常，肝功能检查正常，骨矿物质密度和生活质量显著改善。该病例突出了肝移植在选定的GSD Ia患者中作为确定性代谢治疗的作用，不仅能进行生化纠正，还能预防肿瘤转化和逆转骨骼并发症。
