Anne Roscher1, Jaina Patel2, Stacy Hewson2, Laura Nagy2, Annette Feigenbaum3, Jonathan Kronick2, Julian Raiman2, Andreas Schulze4, Komudi Siriwardena2, Saadet Mercimek-Mahmutoglu5. 1. Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Medical University of Vienna, Department of Pediatric and Adolescent Medicine, Vienna, Austria. 2. Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada. 3. Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Department of Pediatrics & Biochemical Genetics, Rady Children's Hospital-San Diego, University of California, San Diego, CA, USA. 4. Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. 5. Division of Clinical and Metabolic Genetics, Department of Pediatrics, University of Toronto, Toronto, ON, Canada; Genetics and Genome Biology Research Program, Research Institute, The Hospital for Sick Children, Toronto, ON, Canada. Electronic address: saadet.mahmutoglu@sickkids.ca.
Abstract
OBJECTIVES: Glycogen storage disease (GSD) types VI and IX are caused by phosphorylase system deficiencies. To evaluate the natural history and long-term treatment outcome of the patients with GSD-VI and -IX, we performed an observational retrospective case study of 21 patients with confirmed diagnosis of GSD-VI or -IX. METHODS: All patients with GSD-VI or -IX, diagnosed at The Hospital for Sick Children, were included. Electronic and paper charts were reviewed for clinical features, biochemical investigations, molecular genetic testing, diagnostic imaging, long-term outcome and treatment by two independent research team members. All information was entered into an Excel database. RESULTS: We report on the natural history and treatment outcomes of the 21 patients with GSD-VI and -IX and 16 novel pathogenic mutations in the PHKA2, PHKB, PHKG2 and PYGL genes. We report for the first time likely liver adenoma on liver ultrasound and liver fibrosis on liver biopsy specimens in patients with GSD-VI and mild cardiomyopathy on echocardiography in patients with GSD-VI and -IXb. CONCLUSION: We recommend close monitoring in all patients with GSD-VI and -IX for the long-term liver and cardiac complications. There is a need for future studies if uncooked cornstarch and high protein diet would be able to prevent long-term complications of GSD-VI and -IX. Crown
OBJECTIVES: Glycogen storage disease (GSD) types VI and IX are caused by phosphorylase system deficiencies. To evaluate the natural history and long-term treatment outcome of the patients with GSD-VI and -IX, we performed an observational retrospective case study of 21 patients with confirmed diagnosis of GSD-VI or -IX. METHODS: All patients with GSD-VI or -IX, diagnosed at The Hospital for Sick Children, were included. Electronic and paper charts were reviewed for clinical features, biochemical investigations, molecular genetic testing, diagnostic imaging, long-term outcome and treatment by two independent research team members. All information was entered into an Excel database. RESULTS: We report on the natural history and treatment outcomes of the 21 patients with GSD-VI and -IX and 16 novel pathogenic mutations in the PHKA2, PHKB, PHKG2 and PYGL genes. We report for the first time likely liver adenoma on liver ultrasound and liver fibrosis on liver biopsy specimens in patients with GSD-VI and mild cardiomyopathy on echocardiography in patients with GSD-VI and -IXb. CONCLUSION: We recommend close monitoring in all patients with GSD-VI and -IX for the long-term liver and cardiac complications. There is a need for future studies if uncooked cornstarch and high protein diet would be able to prevent long-term complications of GSD-VI and -IX. Crown
Authors: Lindsay C Burrage; Simran Madan; Xiaohui Li; Saima Ali; Mahmoud Mohammad; Bridget M Stroup; Ming-Ming Jiang; Racel Cela; Terry Bertin; Zixue Jin; Jian Dai; Danielle Guffey; Milton Finegold; Sandesh Nagamani; Charles G Minard; Juan Marini; Prakash Masand; Deborah Schady; Benjamin L Shneider; Daniel H Leung; Deeksha Bali; Brendan Lee Journal: JCI Insight Date: 2020-02-27
Authors: María M Adeva-Andany; Manuel González-Lucán; Cristóbal Donapetry-García; Carlos Fernández-Fernández; Eva Ameneiros-Rodríguez Journal: BBA Clin Date: 2016-02-27