{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,12]],"date-time":"2026-10-12T18:09:51Z","timestamp":1791828591668,"version":"4.3.4"},"reference-count":22,"publisher":"American Medical Association (AMA)","issue":"2","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["JAMA Netw Open"],"abstract":"Importance<\/jats:title>Glycogen storage disease type Ib (GSDIb) is a rare metabolic disorder characterized by impaired glucose-6-phosphate transporter function with limited descriptions.<\/jats:p><\/jats:sec>Objective<\/jats:title>To describe the genetic and clinical features of Chinese patients with GSDIb.<\/jats:p><\/jats:sec>Design, Setting, and Participants<\/jats:title>This retrospective cohort study retrieved the medical records of 113 Chinese patients with GSDIb treated at a single institution in Shanghai from November 1, 2000, to June 30, 2024.<\/jats:p><\/jats:sec>Main Outcomes and Measures<\/jats:title>Biochemical parameters and clinical features (infections, inflammatory bowel disease [IBD], kidney and cardiovascular issues, growth and puberty) at baseline and the last follow-up, all-cause mortality, and mental and social development were assessed.<\/jats:p><\/jats:sec>Results<\/jats:title>A total of 113 patients (96 children [85%]; 67 males [59%]) had GSDIb genetically diagnosed at a median age of 1.4 (range, 0.0-35.5) years. Thirty-eight novel SLC37A4<\/jats:italic> variants were identified. Hypoglycemia and metabolic derangements were the primary concerns in patients aged 2 years or younger (45%). Short stature (75%), infections (75%), and recurrent epistaxis (31%) became more prevalent in patients aged 2.1 to 5.0 years. The frequency of respiratory tract infection decreased after a median age of 7.0 (IQR, 3.5-10.5) years. Forty-four patients (46%) developed IBD at a median age of 6.0 (IQR, 3.0-12.0) years, 14% of whom developed IBD-associated arthritis at a median age of 10.5 (IQR, 5.8-19.6) years. The mean (SD) difference between the z scores of actual height and target height (\u0394 height z<\/jats:italic> scores) at the final visit (\u22122.11 [1.76]) did not significantly increase even after uncooked cornstarch treatment. The mean (SD) \u0394 height z<\/jats:italic> scores of the patients with IBD (\u22122.99 [1.70]) were significantly lower than those without IBD (mean [SD], \u22121.36 [1.44]) (P<\/jats:italic>\u2009&amp;lt;\u2009.001). Ten patients (9%) died due to complications of GSDIb, including metabolic derangements, sepsis, and\/or severe pneumonia (n\u2009=\u20098), IBD (n\u2009=\u20091), and pulmonary hypertension (n\u2009=\u20091).<\/jats:p><\/jats:sec>Conclusions and Relevance<\/jats:title>In this cohort study, the genetic and clinical spectra of GSDIb were broadened, suggesting associations between GSDIb and bowel, growth, and survival outcomes. To date, no previous study reported IBD-associated arthritis.<\/jats:p><\/jats:sec>","DOI":"10.1001\/jamanetworkopen.2024.61888","type":"journal-article","created":{"date-parts":[[2025,2,26]],"date-time":"2025-02-26T16:32:48Z","timestamp":1740587568000},"page":"e2461888","source":"Crossref","is-referenced-by-count":6,"title":["Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib"],"prefix":"10.1001","volume":"8","author":[{"given":"Yu","family":"Xia","sequence":"first","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Yu","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"},{"name":"Department of Clinical Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Taozi","family":"Du","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Chengkai","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Ying","family":"Xu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Internal Medicine, 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China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Manqing","family":"Sun","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Bing","family":"Xiao","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, Shanghai Institute of Pediatric Research, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"},{"name":"Department of Clinical Genetics, Xinhua Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Wenjuan","family":"Qiu","sequence":"additional","affiliation":[{"name":"Department of Pediatric Endocrinology and Genetic Metabolism, Xinhua Hospital, 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