Hepatic Glycogen Storage Diseases: Pathogenesis, Clinical Symptoms and Therapeutic Management
State of the art paper Hepatology Hepatic glycogen storage diseases: pathogenesis, clinical symptoms and therapeutic management Edyta Szymańska1, Dominika A. Jóźwiak-Dzięcielewska2, Joanna Gronek2, Marta Niewczas3, Wojciech Czarny4, Dariusz Rokicki1, Piotr Gronek2 1Department of Gastroenterology, Hepatology, Feeding Disorders and Pediatrics, Corresponding author: The Children’s Memorial Health Institute, Warsaw, Poland Edyta Szymańska MD, PhD 2Laboratory of Genetics, Department of Gymnastics and Dance, University School Department of Physical Education, Poznan, Poland of Gastroenterology, 3Department of Sport, Faculty of Physical Education, University of Rzeszow, Rzeszow, Hepatology, Feeding Poland Disorders and 4Department of Human Sciences, Faculty of Physical Education, University of Rzeszow, Pediatrics Rzeszow, Poland The Children’s Memorial Health Institute Submitted: 13 October 2017; Accepted: 8 December 2017; Al. Dzieci Polskich 20 Online publication: 18 February 2019 Warsaw, Poland Phone: +48 22 815 74 94 Arch Med Sci 2021; 17 (2): 304–313 E-mail: edyta.szymanska@ DOI: https://doi.org/10.5114/aoms.2019.83063 ipczd.pl Copyright © 2019 Termedia & Banach Abstract Glycogen storage diseases (GSDs) are genetically determined metabolic diseases that cause disorders of glycogen metabolism in the body. Due to the enzymatic defect at some stage of glycogenolysis/glycogenesis, excess glycogen or its pathologic forms are stored in the body tissues. The first symptoms of the disease usually appear during the first months of life and are thus the domain of pediatricians. Due to the fairly wide access of the authors to unpublished materials and research, as well as direct contact with the GSD patients, the article addresses the problem of actual diag- nostic procedures for patients with the suspected diseases.
[Show full text]