Clinical analysis and long-term treatment monitoring of 3 patients with glycogen storage disease type Ib.

ABSTRACT:

Background

To investigate the clinical and genetic characteristics of patients with glycogen storage disease type Ib (GSD Ib).

Case presentation

This report retrospectively analyzed the clinical data of 3 patients with GSD Ib admitted into our hospital, and summarized their onset characteristics, clinical manifestations, related examinations and treatment as well as mutational spectrum. After gene sequencing, the diagnosis of GSD Ib was confirmed in all 3 patients. Five variants of SLC37A4 gene were detected, of which c. 572C > T was the common variant and c. 680G > A was a novel variant. The 3 cases of GSD Ib were mainly affected by liver enlargement, growth retardation, etc., and all had a history of repeated infections. At the onset, patients mainly manifested as mildly e

SUBMITTER: Du C 

PROVIDER: S-EPMC7972195 | biostudies-literature | 2021 Mar

REPOSITORIES: biostudies-literature