Rapid progression of β-cell dysfunction in a patient with glycogen storage disease type 1a complicated by diabetes: longitudinal assessment by serial OGTTs with a review of the literature
Abstract
Glycogen storage disease type 1a (GSD1a) is characterized by hypoglycemia in childhood; however, cases complicated by diabetes in adulthood have increasingly been reported. The clinical phenotype of GSD1a appears heterogeneous, and insulin secretory capacity in the patients has not been fully characterized. Herein, we report the case of a 20-year-old woman with GSD1a who was initially diagnosed with type 2 diabetes in early adulthood. The patient's glycemic control gradually deteriorated despite administration of oral antidiabetic agents. Longitudinal evaluation using 75-g oral glucose tolerance tests demonstrated a marked decline in insulin secretion within 10 months. Based on these findings, insulin therapy was initiated, resulting in stable glycemic control. This case suggests that rapid β-cell decompensation occurs during the clinical course of early-onset diabetes in young patients with GSD1a.
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BibTeX
@article{niri2026rapid,
title = {{Rapid progression of β-cell dysfunction in a patient with glycogen storage disease type 1a complicated by diabetes: longitudinal assessment by serial OGTTs with a review of the literature}},
author = {Tetsuro Niri and Ai Haraguchi and Ryoji Sato and Minori Kakita and Moeko Kubo and Ayaka Sako and Sumito Dateki and Norio Abiru and Atsushi Kawakami and Ichiro Horie},
journal = {Endocrine Journal},
year = {2026},
month = sep,
doi = {10.1507/endocrj.ej26-0310},
url = {https://www.jstage.jst.go.jp/article/endocrj/advpub/0/advpub_EJ26-0310/_article},
note = {CC BY-NC-ND},
}
RIS
TY - JOUR
TI - Rapid progression of β-cell dysfunction in a patient with glycogen storage disease type 1a complicated by diabetes: longitudinal assessment by serial OGTTs with a review of the literature
AU - Tetsuro Niri
AU - Ai Haraguchi
AU - Ryoji Sato
AU - Minori Kakita
AU - Moeko Kubo
AU - Ayaka Sako
AU - Sumito Dateki
AU - Norio Abiru
AU - Atsushi Kawakami
AU - Ichiro Horie
PY - 2026
DA - 2026/09/18
JO - Endocrine Journal
DO - 10.1507/endocrj.ej26-0310
UR - https://www.jstage.jst.go.jp/article/endocrj/advpub/0/advpub_EJ26-0310/_article
AB - Glycogen storage disease type 1a (GSD1a) is characterized by hypoglycemia in childhood; however, cases complicated by diabetes in adulthood have increasingly been reported. The clinical phenotype of GSD1a appears heterogeneous, and insulin secretory capacity in the patients has not been fully characterized. Herein, we report the case of a 20-year-old woman with GSD1a who was initially diagnosed with type 2 diabetes in early adulthood. The patient's glycemic control gradually deteriorated despite administration of oral antidiabetic agents. Longitudinal evaluation using 75-g oral glucose tolerance tests demonstrated a marked decline in insulin secretion within 10 months. Based on these findings, insulin therapy was initiated, resulting in stable glycemic control. This case suggests that rapid β-cell decompensation occurs during the clinical course of early-onset diabetes in young patients with GSD1a.
SN - 1348-4540
SN - 0918-8959
ER -