Hepatic Manifestations in Glycogen Storage Disease Type III
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2018-12-01
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© 2018, Springer Science+Business Media, LLC, part of Springer Nature. 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.
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Korlimarla, A, S Austin, B Sun and P Kishnani (2018). Hepatic Manifestations in Glycogen Storage Disease Type III. Current Pathobiology Reports, 6(4). pp. 233–240. 10.1007/s40139-018-0182-x Retrieved from https://hdl.handle.net/10161/21304.
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Baodong Sun
My overall research interests are finding effective treatment for human inherited metabolic disorders, including glycogen storage diseases (GSDs) and lysosomal storage diseases (LSDs) . My current research focuses on identification of novel therapeutic targets and development of effective therapies for Pompe disease (GSD II) and Cori disease (GSD III) using murine and canine animal disease models. The main therapeutic approaches we are using in our pre-clinical studies include protein/enzyme therapy, AAV-mediated gene therapy, and substrate reduction therapy with small molecule drugs.
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