Abstract：
Glycogen storage disease type 1A (GSD1A), also known as Von Gierke\'s disease, is a rare autosomal recessive disorder affecting glycogen metabolism in the liver. It most commonly presents in infancy with hypoglycaemia and failure to thrive, but cases have been reported as undiagnosed until adulthood. A woman in her early 20s with diabetes mellitus presented with right upper quadrant pain and was found to have several haemorrhagic hepatic adenomas. This patient had insulin-dependent diabetes since a pancreatectomy at age 9 months due to continued episodes of hypoglycaemia and suspected insulinoma. During the hospital stay, the hepatic adenomas were embolised, but significant lactic acidosis and hypoglycaemia continued. Further workup revealed a chronic lactic acid level, during several hospital stays, of above 5 mmol/L. After cytology of hepatic tissue ruled out hepatocellular carcinoma, the patient was discharged and recommended to follow-up for genetic testing, which confirmed the diagnosis of GSD1A.
摘要：
糖原贮积病1A(GSD1A)，也被称为VonGierke病,是一种影响肝脏糖原代谢的罕见常染色体隐性遗传疾病。它最常见于婴儿期，伴有低血糖和未能茁壮成长，但是据报道，直到成年后才被诊断出来。一名20多岁的女性患有糖尿病，表现出右上腹疼痛，被发现患有几例出血性肝腺瘤。该患者自9个月大的胰腺切除术以来，由于持续的低血糖发作和可疑的胰岛素瘤，患有胰岛素依赖型糖尿病。住院期间,肝腺瘤被栓塞,但显著的乳酸性酸中毒和低血糖仍在继续。进一步的检查发现了慢性乳酸水平，在几次住院期间，大于5mmol/L肝组织细胞学检查排除了肝细胞癌，患者已出院，并建议进行基因检测的随访，证实了GSD1A的诊断。
