Enhanced lysosomal glycogen breakdown is associated with liver tumorigenesis in glycogen storage disease type III.

ABSTRACT:

Background & aims

Glycogen storage disease type III (GSDIII) is a rare metabolic disorder caused by mutations in the glycogen debranching enzyme (AGL), leading to hepatic glycogen accumulation, fibrosis and increased hepatocellular carcinoma (HCC) risk. This study investigates the metabolic mechanisms driving liver tumorigenesis in an Agl ^-/- model of GSDIII.

Methods

Liver and tumor samples from 14-month-old Agl ^-/- and Agl ^+/+ mice, and liver biopsies from patients with GSDIII (n = 4), were analyzed using histological, biochemical and molecular approaches.

Results

Agl ^-/- mice recapitulated key features of GSDIII, including a 3.5-fold hepatic glycogen overload (

SUBMITTER: Montalvo-Romeral V 

PROVIDER: S-EPMC12878629 | biostudies-literature | 2026 Mar

REPOSITORIES: biostudies-literature