{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,7,3]],"date-time":"2026-07-03T18:30:03Z","timestamp":1783103403874,"version":"3.54.6"},"reference-count":36,"publisher":"Wiley","issue":"4","license":[{"start":{"date-parts":[[2023,6,14]],"date-time":"2023-06-14T00:00:00Z","timestamp":1686700800000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["J of Inher Metab Disea"],"published-print":{"date-parts":[[2023,7]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:sec><jats:title>Background<\/jats:title><jats:p>Glycogen storage disease type Ia (GSDIa) is caused by biallelic pathogenic variants in the glucose\u20106\u2010phosphatase gene (<jats:italic>G6PC<\/jats:italic>) and mainly characterized by hypoglycemia, hepatomegaly, and renal insufficiency. Although its symptoms are reportedly mild in patients carrying the <jats:italic>G6PC<\/jats:italic> c.648G&gt;T variant, the predominant variant in Japanese patients, details remain unclear. Therefore, we examined continuous glucose monitoring (CGM) data and daily nutritional intake to clarify their associations in Japanese patients with GSDIa with <jats:italic>G6PC<\/jats:italic> c.648G&gt;T.<\/jats:p><\/jats:sec><jats:sec><jats:title>Methods<\/jats:title><jats:p>This cross\u2010sectional study enrolled 32 patients across 10 hospitals. CGM was performed for 14\u2009days, and nutritional intake was recorded using electronic diaries. Patients were divided according to genotype (homozygous\/compound heterozygous) and age. The durations of biochemical hypoglycemia and corresponding nutritional intake were analyzed. Multiple regression analysis was performed to identify factors associated with the duration of biochemical hypoglycemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Results<\/jats:title><jats:p>Data were analyzed for 30 patients. The mean daily duration of hypoglycemia (&lt;4.0\u2009mmol\/L) in the homozygous group increased with age (2\u201311\u2009years [<jats:italic>N<\/jats:italic>\u2009=\u20098]: 79.8\u2009min; 12\u201318\u2009years [5]: 84.8\u2009min; \u226519\u2009years [10]: 131.5\u2009min). No severe hypoglycemic symptoms were recorded in the patients' diaries. The mean frequency of snack intake was approximately three times greater in patients aged 2\u201311\u2009years (7.1 times\/day) than in those aged 12\u201318\u2009years (1.9 times\/day) or \u226519\u2009years (2.2 times\/day). Total cholesterol and lactate were independently associated with the duration of biochemical hypoglycemia.<\/jats:p><\/jats:sec><jats:sec><jats:title>Conclusion<\/jats:title><jats:p>Although nutritional therapy prevents severe hypoglycemia in patients with GSDIa with <jats:italic>G6PC<\/jats:italic> c.648G&gt;T, patients often experience asymptomatic hypoglycemia.<\/jats:p><\/jats:sec>","DOI":"10.1002\/jimd.12610","type":"journal-article","created":{"date-parts":[[2023,4,28]],"date-time":"2023-04-28T12:04:04Z","timestamp":1682683444000},"page":"618-633","update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":9,"title":["Blood glucose trends in glycogen storage disease type Ia: A cross\u2010sectional study"],"prefix":"10.1002","volume":"46","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3754-5357","authenticated-orcid":false,"given":"Tokiko","family":"Fukuda","sequence":"first","affiliation":[{"name":"Department of Hamamatsu Child Health and Development Hamamatsu University School of Medicine  Hamamatsu Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tetsuya","family":"Ito","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Fujita Health University School of Medicine  Toyoake Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Takashi","family":"Hamazaki","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Osaka Metropolitan University Graduate School of Medicine  Osaka Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ayano","family":"Inui","sequence":"additional","affiliation":[{"name":"Department of Pediatric Hepatology and Gastroenterology Saiseikai Yokohama\u2010city Tobu Hospital  Yokohama Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Mika","family":"Ishige","sequence":"additional","affiliation":[{"name":"Department of Pediatrics and Child Health Nihon University School of Medicine  Tokyo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Reiko","family":"Kagawa","sequence":"additional","affiliation":[{"name":"Department of Pediatrics Hiroshima University Graduate School of Biomedical and Health Sciences  Hiroshima Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Norio","family":"Sakai","sequence":"additional","affiliation":[{"name":"Child Healthcare and Genetic Science Laboratory, Division of Health Sciences Osaka University Graduate School of Medicine  Suita Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yoriko","family":"Watanabe","sequence":"additional","affiliation":[{"name":"Research Institute of Medical Mass Spectrometry Kurume University School of Medicine  Kurume Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Hironori","family":"Kobayashi","sequence":"additional","affiliation":[{"name":"Laboratories Division Shimane University Hospital  Izumo Japan"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yosuke","family":"Wasaki","sequence":"additional","affiliation":[{"name":"Clinical Development Department III, Development Function Research and Development Division, Daiichi Sankyo Co., Ltd.  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