Nana Mitan, Anastasopoulou Catherine, Parikh Nirzar S., Ahlawat Rajni
Independent Medical Officer
Jefferson Einstein Medical Center
Glycogen storage disease type I (GSD I), also known as Von Gierke disease, is an autosomal recessive inherited disorder that disrupts glucose production through glycogenolysis and gluconeogenesis. First documented by Dr. Edgar Von Gierke in 1929, GSD I is characterized by severe metabolic imbalances resulting from mutations that disrupt glucose-6-phosphatase (G6Pase) activity in the endoplasmic reticulum. This causes glycogen to accumulate primarily in the liver and kidneys, leading to severe fasting hypoglycemia, hyperlipidemia, lactic acidosis, hepatomegaly, and in some cases, immune dysfunction. The presentation of symptoms usually starts at around 3 to 4 months of age. GSD 1 has the following 2 main subtypes: 1. : Deficiency of G6Pase, the enzyme that converts glucose-6-phosphate (G6P) to glucose . 2. : Defect in glucose-6-phosphate translocase (G6PT), the transporter enzyme that moves G6P to the endoplasmic reticulum for hydrolysis and conversion to glucose. While G6Pase enzyme activity levels remain normal in patients with GSD 1b, the catalytic conversion rate of G6P is markedly decreased. Noninvasive genetic testing is the investigation of choice in patients suspected of having this disease, and treatment revolves around dietary modification. However, life expectancy remains reduced in patients with this disorder, and the risk of developing hepatic adenomas, hepatocellular carcinoma, and renal failure remains elevated. Novel therapies, eg, medications and gene therapy, are being investigated and trialed.
I型糖原贮积病（GSD I），也称为冯·吉尔克病，是一种常染色体隐性遗传性疾病，通过糖原分解和糖异生破坏葡萄糖生成。1929年由埃德加·冯·吉尔克博士首次记录，GSD I的特征是内质网中破坏葡萄糖-6-磷酸酶（G6Pase）活性的突变导致严重的代谢失衡。这导致糖原主要在肝脏和肾脏中积累，导致严重的空腹低血糖、高脂血症、乳酸酸中毒、肝肿大，在某些情况下还会导致免疫功能障碍。症状通常在3至4个月大时开始出现。GSD 1有以下2种主要亚型：1. ：G6Pase缺乏，即一种将葡萄糖-6-磷酸（G6P）转化为葡萄糖的酶。2. ：葡萄糖-6-磷酸转运体（G6PT）缺陷，即一种将G6P转运到内质网进行水解并转化为葡萄糖的转运酶。虽然1b型GSD患者的G6Pase酶活性水平保持正常，但G6P的催化转化率明显降低。对于疑似患有这种疾病的患者，非侵入性基因检测是首选的检查方法，治疗主要围绕饮食调整。然而，这种疾病患者的预期寿命仍然缩短，患肝腺瘤、肝细胞癌和肾衰竭的风险仍然很高。正在研究和试验新的治疗方法，例如药物治疗和基因治疗。
