LAUSR

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.