Clinical and genetic analyses of 17 Chinese patients with glycogen storage disease type IXc.

ABSTRACT:

Background

Glycogen storage disease type IXc (GSD IXc) is an ultra-rare disorder impairing liver glycogen degradation, caused by a defect in phosphorylase kinase (PhK) γ subunit in the liver encoded by PHKG2. We aim to investigate the clinical, biochemical, genetic, therapeutic, and follow-up characteristics of 17 GSD IXc patients.

Methods

Medical records were retrieved, focusing on clinical (height, complications etc.), biochemical [blood glucose, liver transaminases, chitotriosidase (Chit), etc.], genetic, treatment, and follow-up data for 17 patients (8 males, 9 females) with GSD IXc including 16 pediatric patients and one adult.

Results

Abdominal distension (16/16), hypoglycemia (16/16), muscular weakness (12/16), and short stature (5/16) were among the most commo

SUBMITTER: Sun C 

PROVIDER: S-EPMC12849681 | biostudies-literature | 2025 Dec

REPOSITORIES: biostudies-literature