Liver transplantation in glycogen storage disease type III: A case-series.

ABSTRACT: Glycogen storage disease type III (GSD III) is a rare metabolic disorder characterized by a deficiency of liver and muscle amylo-1,6-glucosidase. This condition presents with severe hepatic symptoms in childhood, mostly hepatomegaly, hypoglycemia in half of patients, while muscular complications may predominate in adulthood. Hepatic fibrosis, cirrhosis and hepatocellular carcinoma (HCC) are common complications in older patients. Therefore, regular monitoring, including HCC screening, is essential for effective disease management. In some severe cases, liver transplantation (LT) may be necessary to treat life-threatening complications. Here, we report the cases of three adult patients who required LT during the course of GSD III. Case #1: Diagnosis of GSD III was made in childhood, with de

SUBMITTER: Gay S 

PROVIDER: S-EPMC11758152 | biostudies-literature | 2025 Jan

REPOSITORIES: biostudies-literature