Hepatic Manifestations in Glycogen Storage Disease Type III

Purpose of Review: Glycogen storage disease type III (GSD III) is an orphan disease that mainly affects the liver, heart, and skeletal muscles. It is caused by the deficiency of glycogen debranching enzyme (GDE), resulting in accumulation of glycogen (limit dextrin) primarily in the cytoplasm. With an increase in life expectancy in patients and advances in research, long-term hepatic manifestations are being recognized. This review examines our understanding of the natural history of the hepatic manifestations of GSD III and the importance of developing definitive therapies. Recent Findings: Animal models have shown specific trends in biochemical and histological features such as changes in liver enzymes and progressive hepatic fibrosis, with increasing age. In our clinical experience, patients with GSD III show similar trends. Summary: Our review highlights (a) hepatic manifestations in GSD III, (b) the natural history, (c) existing animal models, and (d) current research on therapeutic approaches.

Duke Scholars

Author Baodong Sun Pediatrics, Medical Genetics

Author Priya Sunil Kishnani Pediatrics, Medical Genetics