Yu Xia, Yu Sun, Taozi Du, Chengkai Sun, Ying Xu, Wensong Ge, Lili Liang, Ruifang Wang, Manqing Sun, Bing Xiao, Wenjuan Qiu
Xinhua Hospital, Ruijin Hospital and Shanghai Jiao Tong University.
China
Journal of the American Medical Association Network Open
JAMA Netw Open 2025; 8:
DOI: 10.1001/jamanetworkopen.2024.61888
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.
Category
Class V. Pulmonary Hypertension Associated with Hematological, Systemic, Metabolic and Other Disorders
Genetic Factors Associated with Pulmonary Vascular Disease
Age Focus: Pediatric Pulmonary Vascular Disease or Adult Pulmonary Vascular Disease
Fresh or Filed Publication: Fresh (PHresh). Less than 1-2 years since publication
Article Access
Free PDF File or Full Text Article Available Through PubMed or DOI: Yes