Background

Glycogen storage disease type I (GSDI) is caused by deficiency of the enzyme glucose-6-phosphatase or glucose-6-phosphate transporter. Mainstay of treatment is provision of uncooked cornstarch (and/or continuous nocturnal pump feed (CNPF) to maintain normoglycemia). Waxy maize heat modified starch (WMHMS) is another treatment option to maintain normoglycemia overnight. Our objective was to describe our experience treating children 2–5 years of age with GSDI using WMHMS overnight.

Method

This is a retrospective case series review (n = 5) comparing the overnight feeding regimen and biochemical control one year before and after nocturnal WMHMS therapy. The WMHMS trial, in which blood glucose and lactate levels were monitored hourly, is reported in detail.

Results

Most patients successfully transitioned to nocturnal WMHMS feeds. These patients had stable glucose and lactate throughout the overnight period, permitting a fasting period of 6.5–8 h overnight. Within the time period studied, WMHMS appeared to have improved overnight control of blood glucose levels with fewer reported episodes of hypoglycemia compared to CNPF.

Conclusion

WMHMS can be an effective substitute treatment to achieve stable nocturnal glucose control in children younger than five years of age. A larger multicenter prospective study is recommended to establish stronger evidence of the efficacy and safety of using WMHMS in treatment of young children with GSDI.

中文翻译：

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使用糯玉米热变性淀粉治疗 2 至 5 岁 I 型糖原贮积病儿童：一项回顾性研究。

背景

I型糖原贮积病（GSDI）是由葡萄糖6-磷酸酶或葡萄糖6-磷酸转运蛋白缺乏引起的。主要治疗方法是提供未煮过的玉米淀粉（和/或连续夜间泵食（CNPF）以维持血糖正常）。糯玉米热变性淀粉 (WMHMS) 是另一种维持夜间血糖正常的治疗选择。我们的目标是描述我们使用 WMHMS 在一夜之间使用 GSDI 治疗 2-5 岁儿童的经验。

方法

这是一项回顾性病例系列综述 ( n  = 5)，比较了夜间 WMHMS 治疗前后一年的过夜喂养方案和生化控制。详细报告了每小时监测血糖和乳酸水平的 WMHMS 试验。

结果

大多数患者成功过渡到夜间 WMHMS 饲料。这些患者在整个过夜期间具有稳定的葡萄糖和乳酸，允许过夜禁食 6.5-8 小时。在研究的时间段内，与 CNPF 相比，WMHMS 似乎改善了对血糖水平的夜间控制，报告的低血糖发作次数更少。

结论

WMHMS 可以成为一种有效的替代治疗，以实现 5 岁以下儿童稳定的夜间血糖控制。建议进行更大规模的多中心前瞻性研究，以建立更有力的证据来证明使用 WMHMS 治疗 GSDI 幼儿的有效性和安全性。