ArticleJAMA network open2025
Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.
Article in JAMA network open, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed.
- Moyamoya Vasculopathy with Atypical Cogan's Syndrome: A Case Report.Archives of clinical and medical case reports · 2026Article
- [Research progress of inherited liver disease in 2025].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2026Review
- Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.Orphanet journal of rare diseases · 2025Article
- Growth impairment in glycogen storage disease type I versus types III/VI/IX: a cross-sectional study.BMC pediatrics · 2025Article
- Clinical and Genetic Profile of 35 Patients with Glycogen Storage Disease Type 1b: A Comparative Analysis Before and During SGLT2 Inhibitor Therapy.Molecular diagnosis & therapy · 2025Article
- Empagliflozin as treatment in glycogen storage disease type IB patients.Molecular genetics and metabolism reports · 2025Article
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Abstract
Importance: Glycogen storage disease type Ib (GSDIb) is a rare metabolic disorder characterized by impaired glucose-6-phosphate transporter function with limited descriptions. Objective: To describe the genetic and clinical features of Chinese patients with GSDIb. Design, Setting, and Participants: 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. Main Outcomes and Measures: 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. Results: 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 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 (Δ height z scores) at the final visit (-2.11 [1.76]) did not significantly increase even after uncooked cornstarch treatment. The mean (SD) Δ height z scores of the patients with IBD (-2.99 [1.70]) were significantly lower than those without IBD (mean [SD], -1.36 [1.44]) (P < .001). Ten patients (9%) died due to complications of GSDIb, including metabolic derangements, sepsis, and/or severe pneumonia (n = 8), IBD (n = 1), and pulmonary hypertension (n = 1). Conclusions and Relevance: 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.
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