Glycogen Storage Diseases and Myoclonus
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Abstract
Abstract
Abstract Background Glycogen storage disease type 1a (GSD-1a) is a rare inherited metabolic disorder characterized by impaired glucose homeostasis and progressive renal involvement. As life expectancy has improved, an increasing number of patients develop end-stage kidney disease (ESKD); however, optimal renal replacement therapy (RRT) strategies remain unclear. Case presentation We report a 48-year-old man with GSD-1a who progressed to ESKD and underwent initiation of peritoneal dialysis (PD). Despite dietary management, he experienced recurrent nocturnal hypoglycemia. Continuous glucose monitoring (CGM) was used to evaluate glucose profiles under different PD modalities. Intermittent PD without nocturnal dialysate dwelling and continuous ambulatory PD were insufficient to prevent nocturnal hypoglycemia. Switching to nightly intermittent PD enabled continuous nocturnal glucose absorption from dialysate exchanges, resulting in the resolution of nocturnal hypoglycemia without the need for late-night snacks. Conclusion This case demonstrates that CGM can be a useful tool not only for detecting asymptomatic hypoglycemia but also for individualizing PD prescription in patients with GSD-1a. Individualized RRT strategies based on metabolic characteristics may improve safety and quality of life in this rare population.
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@article{FukuzakiIshii2026Continuous,
title = {Continuous glucose monitoring–guided optimization of peritoneal dialysis prescription in glycogen storage disease type 1a: a case report},
author = {Haruna Fukuzaki-Ishii and Toshiki Kano and Tomomi Ogasa and Sae Iketani and Shin Tanaka and Kai Suzuki and Takuya Maeda and Hiroko Sakuma and Nao Nohara and Hiroaki Io and Yusuke Suzuki and Junichiro Nakata},
journal = {BMC Nephrology},
year = {2026},
doi = {10.1186/s12882-026-05311-3},
url = {https://doi.org/10.1186/s12882-026-05311-3}
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