Abstract：
Glycogen storage disease type Ia (GSDIa) is caused by biallelic pathogenic variants in the glucose-6-phosphatase gene (G6PC) and mainly characterized by hypoglycemia, hepatomegaly, and renal insufficiency. Although its symptoms are reportedly mild in patients carrying the G6PC c.648G>T variant, the predominant variant in Japanese patients, details remain unclear. Therefore, we examined continuous glucose monitoring (CGM) data and daily nutritional intake to clarify their associations in Japanese patients with GSDIa with G6PC c.648G>T.
This cross-sectional study enrolled 32 patients across 10 hospitals. CGM was performed for 14 days, and nutritional intake was recorded using electronic diaries. Patients were divided according to genotype (homozygous/compound heterozygous) and age. The durations of biochemical hypoglycemia and corresponding nutritional intake were analyzed. Multiple regression analysis was performed to identify factors associated with the duration of biochemical hypoglycemia.
Data were analyzed for 30 patients. The mean daily duration of hypoglycemia (<4.0 mmol/L) in the homozygous group increased with age (2-11 years [N = 8]: 79.8 min; 12-18 years [5]: 84.8 min; ≥19 years [10]: 131.5 min). No severe hypoglycemic symptoms were recorded in the patients\' diaries. The mean frequency of snack intake was approximately three times greater in patients aged 2-11 years (7.1 times/day) than in those aged 12-18 years (1.9 times/day) or ≥19 years (2.2 times/day). Total cholesterol and lactate were independently associated with the duration of biochemical hypoglycemia.
Although nutritional therapy prevents severe hypoglycemia in patients with GSDIa with G6PC c.648G>T, patients often experience asymptomatic hypoglycemia.
This cross-sectional study enrolled 32 patients across 10 hospitals. CGM was performed for 14 days, and nutritional intake was recorded using electronic diaries. Patients were divided according to genotype (homozygous/compound heterozygous) and age. The durations of biochemical hypoglycemia and corresponding nutritional intake were analyzed. Multiple regression analysis was performed to identify factors associated with the duration of biochemical hypoglycemia.
Data were analyzed for 30 patients. The mean daily duration of hypoglycemia (<4.0 mmol/L) in the homozygous group increased with age (2-11 years [N = 8]: 79.8 min; 12-18 years [5]: 84.8 min; ≥19 years [10]: 131.5 min). No severe hypoglycemic symptoms were recorded in the patients\' diaries. The mean frequency of snack intake was approximately three times greater in patients aged 2-11 years (7.1 times/day) than in those aged 12-18 years (1.9 times/day) or ≥19 years (2.2 times/day). Total cholesterol and lactate were independently associated with the duration of biochemical hypoglycemia.
Although nutritional therapy prevents severe hypoglycemia in patients with GSDIa with G6PC c.648G>T, patients often experience asymptomatic hypoglycemia.
摘要：
背景：糖原贮积病Ia型（GSDIa）是由葡萄糖-6-磷酸酶基因（G6PC）的双等位基因致病变异引起的，主要以低血糖为特征，肝肿大,和肾功能不全。尽管据报道，携带G6PCc.648G>T变体的患者症状较轻，日本患者的主要变异，细节仍不清楚。因此,我们检查了连续血糖监测（CGM）数据和每日营养摄入量，以阐明日本GSDIa患者与G6PCc.648G>T的关系。
方法：这项横断面研究纳入了10家医院的32名患者。CGM进行了14天，使用电子日记记录营养摄入量。根据基因型(纯合/复合杂合)和年龄来划分患者。分析生化低血糖的持续时间和相应的营养摄入量。进行多元回归分析以确定与生化低血糖持续时间相关的因素。
结果：分析了30例患者的数据。纯合子组低血糖的平均每日持续时间（<4.0mmol/L）随年龄增加（2-11岁[N=8]：79.8分钟；12-18岁[5]：84.8分钟；≥19岁[10]：131.5分钟）。患者日记中没有严重的低血糖症状。2-11岁（7.1次/天）患者的平均零食摄入频率约为12-18岁（1.9次/天）或≥19岁（2.2次/天）患者的三倍。总胆固醇和乳酸与生化低血糖持续时间独立相关。
结论：尽管营养治疗可预防GSDIa患者的严重低血糖，患者为c.648G>T，患者常出现无症状性低血糖.本文受版权保护。保留所有权利。
方法：这项横断面研究纳入了10家医院的32名患者。CGM进行了14天，使用电子日记记录营养摄入量。根据基因型(纯合/复合杂合)和年龄来划分患者。分析生化低血糖的持续时间和相应的营养摄入量。进行多元回归分析以确定与生化低血糖持续时间相关的因素。
结果：分析了30例患者的数据。纯合子组低血糖的平均每日持续时间（<4.0mmol/L）随年龄增加（2-11岁[N=8]：79.8分钟；12-18岁[5]：84.8分钟；≥19岁[10]：131.5分钟）。患者日记中没有严重的低血糖症状。2-11岁（7.1次/天）患者的平均零食摄入频率约为12-18岁（1.9次/天）或≥19岁（2.2次/天）患者的三倍。总胆固醇和乳酸与生化低血糖持续时间独立相关。
结论：尽管营养治疗可预防GSDIa患者的严重低血糖，患者为c.648G>T，患者常出现无症状性低血糖.本文受版权保护。保留所有权利。
