Liver Transplantation for Glycogen Storage Disease Type IV

Min Liu; Li-Ying Sun

doi:10.3389/fped.2021.633822

Liver Transplantation for Glycogen Storage Disease Type IV

Front Pediatr. 2021 Feb 19:9:633822. doi: 10.3389/fped.2021.633822. eCollection 2021.

Authors

Min Liu^{1

2}, Li-Ying Sun^{1

2

3}

Affiliations

¹ Department of Liver Transplantation Center, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
² National Clinical Research Centre for Digestive Diseases, Beijing Friendship Hospital, Capital Medical University, Beijing, China.
³ Department of Intensive Care Unit, Beijing Friendship Hospital, Capital Medical University, Beijing, China.

Abstract

Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen-branching enzyme (GBE) deficiency, leading to accumulation of amylopectin-like glycogen that may damage affected tissues. The clinical manifestations of GSD IV are heterogeneous; one of which is the classic manifestation of progressive hepatic fibrosis. There is no specific treatment available for GSD IV. Currently, liver transplantation is an option. It is crucial to evaluate long-term outcomes of liver transplantation. We reviewed the published literature for GSD IV patients undergoing liver transplantation. To date, some successful liver transplantations have increased the quantity and quality of life in patients. Although the extrahepatic manifestations of GSD IV may still progress after transplantation, especially cardiomyopathy. Patients with cardiac involvement are candidates for cardiac transplantation. Liver transplantation remains the only effective therapeutic option for treatment of GSD IV. However, liver transplantation may not alter the extrahepatic progression of GSD IV. Patients should be carefully assessed before liver transplantation.

Keywords: Andersen disease; glycogen branching enzyme; glycogen storage disease type IV; liver transplantation; metabolism.

Publication types

Review