Genetic Variants and Clinical Features of Patients With Glycogen Storage Disease Type Ib.

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

SUBMITTER: Xia Y 

PROVIDER: S-EPMC11866026 | biostudies-literature | 2025 Feb

REPOSITORIES: biostudies-literature