Glycogen Storage Disease Program, Connecticut Children's Medical Center, Hartford, Connecticut.
Department of Community Medicine and Health Care, University of Connecticut School of Medicine, Farmington, Connecticut.
J Inherit Metab Dis. 2020 Mar;43(2):269-278. doi: 10.1002/jimd.12160. Epub 2019 Sep 4.
Cornstarch has been the primary treatment for glycogen storage disease type Ia (GSD Ia) for over 35 years. When cornstarch was first described as a treatment, few people survived beyond early childhood. As the prognosis for this population has improved, the need to ensure appropriate cornstarch dosing for different age groups has become imperative. Records from 115 patients (10-62 years of age) with GSD Ia evaluated at our center between 2015 and 2017 were reviewed. Data collected included weight, age, genetic mutation, amount and frequency of cornstarch doses, body mass index, gender, 24-hour glucose and lactate concentrations, and biochemical markers of metabolic control. The data demonstrate that adult treatment needs vary greatly from younger age groups, and the required cornstarch support decreases with age (P < .001). The required number of doses, however, did not change with a mean of six doses (range 4-8) daily in all age groups. General laboratory findings across time demonstrate that significantly reducing the amount of starch required to maintain euglycemia with aging can be done without sacrificing metabolic control. Carbohydrate requirements decrease with aging, and older patients were found to require less cornstarch. Failure to lower the cornstarch doses contributes to over-treatment in adults with GSD Ia. Not only does this lead to worsening hepatomegaly and excessive weight gain, but over-treatment contributes to relative hyperinsulinism and rebound hypoglycemia. This knowledge is essential in designing nutritional therapies for the aging GSD population.
淀粉已被用作糖原贮积病 Ia 型（GSD Ia）的主要治疗方法超过 35 年。当首次描述淀粉作为治疗方法时，很少有人能在童年早期后存活下来。随着该人群的预后得到改善，确保不同年龄组的适当淀粉剂量成为当务之急。我们中心对 2015 年至 2017 年间评估的 115 名 GSD Ia 患者（10-62 岁）的记录进行了回顾。收集的数据包括体重、年龄、基因突变、淀粉剂量的数量和频率、体重指数、性别、24 小时血糖和乳酸浓度以及代谢控制的生化标志物。数据表明，成人治疗需求与年轻年龄组有很大差异，且随着年龄的增长，所需的淀粉支持减少（P<.001）。然而，所需的剂量数并未随着所有年龄组平均每天六次（范围 4-8 次）的剂量而变化。随着时间的推移，一般实验室发现表明，随着年龄的增长，显著减少维持血糖正常所需的淀粉量而不牺牲代谢控制是可以实现的。碳水化合物需求随年龄而减少，老年患者需要的淀粉较少。未能降低淀粉剂量会导致 GSD Ia 成人过度治疗。这不仅导致肝肿大和体重过度增加恶化，而且过度治疗还会导致相对高胰岛素血症和反弹低血糖。了解这些知识对于设计老龄化 GSD 人群的营养疗法至关重要。
